Abstract Objectives Fetal adrenals are one of the main organs responsible for maturation and survival. Extant literature is not clear about whether second trimester fetal adrenals are capable of synthesizing secreting aldosterone. Methods We have taken 20 adrenals from fetuses of intrauterine death cases. None of the fetuses had any external malformations and obstetric history was unremarkable. The organs were weighed and homogenized. The supernatant was used for aldosterone estimation by ELISA. Results We consistently detected aldosterone in all the cases including second trimester. However, we did not see any correlation between aldosterone concentration and gestational age. It is striking to note that there are wide variations in the tissue levels of aldosterone across different gestational ages and also same period. Conclusions Tissue aldosterone levels in second trimester can be possibly induced by stress preceding intrauterine deaths. It is possible that functional status of adrenal is different in intrauterine death cases as opposed to elective abortions in second trimester.
{"title":"Tissue concentration of aldosterone in fetal adrenals of intrauterine death cases","authors":"Daisy Dwivedi, B. Chander","doi":"10.1515/jpem-2022-0031","DOIUrl":"https://doi.org/10.1515/jpem-2022-0031","url":null,"abstract":"Abstract Objectives Fetal adrenals are one of the main organs responsible for maturation and survival. Extant literature is not clear about whether second trimester fetal adrenals are capable of synthesizing secreting aldosterone. Methods We have taken 20 adrenals from fetuses of intrauterine death cases. None of the fetuses had any external malformations and obstetric history was unremarkable. The organs were weighed and homogenized. The supernatant was used for aldosterone estimation by ELISA. Results We consistently detected aldosterone in all the cases including second trimester. However, we did not see any correlation between aldosterone concentration and gestational age. It is striking to note that there are wide variations in the tissue levels of aldosterone across different gestational ages and also same period. Conclusions Tissue aldosterone levels in second trimester can be possibly induced by stress preceding intrauterine deaths. It is possible that functional status of adrenal is different in intrauterine death cases as opposed to elective abortions in second trimester.","PeriodicalId":16746,"journal":{"name":"Journal of Pediatric Endocrinology and Metabolism","volume":"18 1","pages":"998 - 1002"},"PeriodicalIF":0.0,"publicationDate":"2022-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79744712","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Carl Gustaf Paludan, Kristoffer Koed Vittrup Thomsen, O. Rahbek, S. Kold
Abstract Objectives XLHR in children with a Rickets Severity Score ≥2 can now be treated with the new antibody drug, Burosumab, which prevents bone deformities and increases gait endurance. This study illustrates the extent of complications in the traditional orthopedic treatment of XLHR. The impact of surgery and severity of complications in this patient population has not been systematically assessed before. Methods The search strategy resulted in 215 studies and data were collected from 19 eligible studies and complications were categorized. Four medical charts of patients with XLHR at Aalborg University Hospital were assessed. Results One complication occurred on average per surgical procedure for XLHR in the published literature. The 168 reported complications were categorized as follows: Type I (n=79): Complications with minimal intervention required and treatment goal still achieved, Type II (n=41): Complications with substantial change in treatment plan and treatment goal still achieved, Type IIIA (n=23): Complications with failure to achieve treatment goal and no new pathology or permanent sequelae, Type IIIB (n=25): Complications with failure to achieve treatment goal and/or new pathology or permanent sequelae. Conclusions In average, one complication occurred per surgery and the severity of complications were substantial. The treatment goal was not achieved in 28% of surgeries whereof half of them resulted in permanent sequalae or new pathology. Our findings support the use of Burosumab for treatment of the skeletal changes in XLHR as the reported side-effects in Burosumab treatment appear negligible compared to the impact of surgeries and related complications (Imel EA, Glorieux FH, Whyte MP, Munns CF, Ward LM, Nilsson O, et al. Burosumab versus conventional therapy in children with X-linked hypophosphataemia: a randomised, active-controlled, open-label, phase 3 trial. Lancet 2019;393:2416–27). However, orthopedic surgery might still be needed for correcting deformities restricting activities of daily living in XLHR patients.
{"title":"Complications of orthopedic treatment in patients diagnosed with X-linked hypophosphatemic rickets","authors":"Carl Gustaf Paludan, Kristoffer Koed Vittrup Thomsen, O. Rahbek, S. Kold","doi":"10.1515/jpem-2021-0775","DOIUrl":"https://doi.org/10.1515/jpem-2021-0775","url":null,"abstract":"Abstract Objectives XLHR in children with a Rickets Severity Score ≥2 can now be treated with the new antibody drug, Burosumab, which prevents bone deformities and increases gait endurance. This study illustrates the extent of complications in the traditional orthopedic treatment of XLHR. The impact of surgery and severity of complications in this patient population has not been systematically assessed before. Methods The search strategy resulted in 215 studies and data were collected from 19 eligible studies and complications were categorized. Four medical charts of patients with XLHR at Aalborg University Hospital were assessed. Results One complication occurred on average per surgical procedure for XLHR in the published literature. The 168 reported complications were categorized as follows: Type I (n=79): Complications with minimal intervention required and treatment goal still achieved, Type II (n=41): Complications with substantial change in treatment plan and treatment goal still achieved, Type IIIA (n=23): Complications with failure to achieve treatment goal and no new pathology or permanent sequelae, Type IIIB (n=25): Complications with failure to achieve treatment goal and/or new pathology or permanent sequelae. Conclusions In average, one complication occurred per surgery and the severity of complications were substantial. The treatment goal was not achieved in 28% of surgeries whereof half of them resulted in permanent sequalae or new pathology. Our findings support the use of Burosumab for treatment of the skeletal changes in XLHR as the reported side-effects in Burosumab treatment appear negligible compared to the impact of surgeries and related complications (Imel EA, Glorieux FH, Whyte MP, Munns CF, Ward LM, Nilsson O, et al. Burosumab versus conventional therapy in children with X-linked hypophosphataemia: a randomised, active-controlled, open-label, phase 3 trial. Lancet 2019;393:2416–27). However, orthopedic surgery might still be needed for correcting deformities restricting activities of daily living in XLHR patients.","PeriodicalId":16746,"journal":{"name":"Journal of Pediatric Endocrinology and Metabolism","volume":"97 1","pages":"1003 - 1009"},"PeriodicalIF":0.0,"publicationDate":"2022-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86530330","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Fang Zhou, Zhenzhen Jin, Li Zhu, F. Huang, Angzhi Ye, C. Hou
Abstract Objectives To explore the associations of environmental endocrine disruptors on precocious puberty in girls. Methods This was a case-control study in which 30 girls with precocious puberty and 46 age- and race-matched prepubertal females were enrolled. The concentrations of 10 environment endocrine disruptors (bisphenol A, bisphenol B, butylparaben, propylparaben, ethvlparaben, methylparaben, mono-butyl phthalate, mono-2-ethylhexyl phthalate, monoethyl phthalate, and monomethyl phthalate) in urine and 10 steroid hormones (dihydrotestosterone, corticosterone, hydrocortisone, 11-deoxycortisol, 17α-hydroxy progesterone, 4-androstene-3,17-dione, estrone, deoxycorticosterone, pregnenolone, and dehydroepiandrosterone) in serum were detected with the liquid chromatography-mass spectrometry (LC-MS). Results According to the Mann–Whitney U test, urinary levels of bisphenol A, monobutyl phthalate, and monomethyl phthalate were significantly higher in the precocious group than in the prepubertal group, and blood levels of hydrocortisone, 11-deoxycortisol, corticosterone, deoxycorticosterone, and pregnenolone were significantly lower in the precocious group than in the prepubertal group (p<0.05, VIP>1). Conclusions Our findings confirm the association between phthalate exposure and the incidence of precocious puberty in girls. Control and reduction of children exposure to phthalate esters should be considered as a health priority.
{"title":"A preliminary study on the relationship between environmental endocrine disruptors and precocious puberty in girls","authors":"Fang Zhou, Zhenzhen Jin, Li Zhu, F. Huang, Angzhi Ye, C. Hou","doi":"10.1515/jpem-2021-0691","DOIUrl":"https://doi.org/10.1515/jpem-2021-0691","url":null,"abstract":"Abstract Objectives To explore the associations of environmental endocrine disruptors on precocious puberty in girls. Methods This was a case-control study in which 30 girls with precocious puberty and 46 age- and race-matched prepubertal females were enrolled. The concentrations of 10 environment endocrine disruptors (bisphenol A, bisphenol B, butylparaben, propylparaben, ethvlparaben, methylparaben, mono-butyl phthalate, mono-2-ethylhexyl phthalate, monoethyl phthalate, and monomethyl phthalate) in urine and 10 steroid hormones (dihydrotestosterone, corticosterone, hydrocortisone, 11-deoxycortisol, 17α-hydroxy progesterone, 4-androstene-3,17-dione, estrone, deoxycorticosterone, pregnenolone, and dehydroepiandrosterone) in serum were detected with the liquid chromatography-mass spectrometry (LC-MS). Results According to the Mann–Whitney U test, urinary levels of bisphenol A, monobutyl phthalate, and monomethyl phthalate were significantly higher in the precocious group than in the prepubertal group, and blood levels of hydrocortisone, 11-deoxycortisol, corticosterone, deoxycorticosterone, and pregnenolone were significantly lower in the precocious group than in the prepubertal group (p<0.05, VIP>1). Conclusions Our findings confirm the association between phthalate exposure and the incidence of precocious puberty in girls. Control and reduction of children exposure to phthalate esters should be considered as a health priority.","PeriodicalId":16746,"journal":{"name":"Journal of Pediatric Endocrinology and Metabolism","volume":"95 1","pages":"989 - 997"},"PeriodicalIF":0.0,"publicationDate":"2022-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88265858","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Marwa S. Galal, Salwa A. Musa, Omer O. Babiker, H. Hamdan, M. Abdullah
Abstract Objectives Delayed puberty is a common presentation to endocrine clinics, with adult height, sexual capability and fertility being the main concerns for the child and his/her family. Presentation is variable including short stature and/or absence of secondary sexual characteristics. The aetiology can either be constitutional, functional or permanent hypogonadotropic hypogonadism, permanent hypergonadotropic hypogonadism or unclassified. Despite the importance of this subject, there are no publications from Sudan. Methods A retrospective hospital-based study. Records of all patients who were seen in the endocrinology unit at Gaffar Ibn Auf Children’s Hospital and were diagnosed as having delayed puberty were reviewed and demographic, clinical, and investigations data were obtained. Results A total of 136 patients were included in this study. Presentation includes short stature in 52.2%, both short stature and delayed puberty in 27.2%, and delayed puberty in 20.6%. The most common aetiologies were permanent hypogonadotropic hypogonadism and functional hypogonadotropic hypogonadism presented in 37.5% and 36% respectively, while constitutional delay of growth and puberty was found in only 14.7%. Type 1 diabetes mellitus (T1DM) was the most frequent chronic illness followed by coeliac disease. Hypergonadotropic hypogonadism was diagnosed in 11.7%, the majority of which were females. Conclusions The aetiological pattern reported in this series highlights the role of nutrition and general well-being in pubertal development, as well as the major impact of genetics and consanguinity on disease patterns. Data from African countries are limited and this is the first reported cohort on delayed puberty from Sudan.
【摘要】目的青春期延迟是内分泌门诊的常见表现，成人身高、性能力和生育能力是儿童及其家庭关注的主要问题。表现是可变的，包括身材矮小和/或没有第二性征。病因可以是体质性、功能性或永久性促性腺功能减退症、永久性高促性腺功能减退症或未分类。尽管这个问题很重要，但苏丹没有发表任何出版物。方法采用回顾性医院研究。回顾了所有在Gaffar Ibn Auf儿童医院内分泌科就诊并被诊断为青春期延迟的患者的记录，并获得了人口统计学、临床和调查数据。结果本研究共纳入136例患者。表现包括身材矮小的占52.2%，身材矮小和青春期延迟的占27.2%，青春期延迟的占20.6%。最常见的病因是永久性促性腺功能低下和功能性促性腺功能低下，分别占37.5%和36%，而体质性生长迟缓和青春期发育迟缓仅占14.7%。1型糖尿病(T1DM)是最常见的慢性疾病，其次是乳糜泻。11.7%诊断为促性腺激素亢进性性腺功能减退，其中以女性居多。本系列报告的病因学模式强调了营养和总体健康在青春期发育中的作用，以及遗传和血缘对疾病模式的主要影响。来自非洲国家的数据有限，这是苏丹首次报道的关于青春期延迟的队列。
{"title":"Clinical profile and aetiologies of delayed puberty: a 15 years’ experience from a tertiary centre in Sudan","authors":"Marwa S. Galal, Salwa A. Musa, Omer O. Babiker, H. Hamdan, M. Abdullah","doi":"10.1515/jpem-2022-0243","DOIUrl":"https://doi.org/10.1515/jpem-2022-0243","url":null,"abstract":"Abstract Objectives Delayed puberty is a common presentation to endocrine clinics, with adult height, sexual capability and fertility being the main concerns for the child and his/her family. Presentation is variable including short stature and/or absence of secondary sexual characteristics. The aetiology can either be constitutional, functional or permanent hypogonadotropic hypogonadism, permanent hypergonadotropic hypogonadism or unclassified. Despite the importance of this subject, there are no publications from Sudan. Methods A retrospective hospital-based study. Records of all patients who were seen in the endocrinology unit at Gaffar Ibn Auf Children’s Hospital and were diagnosed as having delayed puberty were reviewed and demographic, clinical, and investigations data were obtained. Results A total of 136 patients were included in this study. Presentation includes short stature in 52.2%, both short stature and delayed puberty in 27.2%, and delayed puberty in 20.6%. The most common aetiologies were permanent hypogonadotropic hypogonadism and functional hypogonadotropic hypogonadism presented in 37.5% and 36% respectively, while constitutional delay of growth and puberty was found in only 14.7%. Type 1 diabetes mellitus (T1DM) was the most frequent chronic illness followed by coeliac disease. Hypergonadotropic hypogonadism was diagnosed in 11.7%, the majority of which were females. Conclusions The aetiological pattern reported in this series highlights the role of nutrition and general well-being in pubertal development, as well as the major impact of genetics and consanguinity on disease patterns. Data from African countries are limited and this is the first reported cohort on delayed puberty from Sudan.","PeriodicalId":16746,"journal":{"name":"Journal of Pediatric Endocrinology and Metabolism","volume":"20 1","pages":"938 - 945"},"PeriodicalIF":0.0,"publicationDate":"2022-06-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84436997","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Ekkachai Nakaviroj, S. Aroonparkmongkol, S. Kunjan, Nutcha Sarutipaisarn, V. Supornsilchai
Abstract Objectives Phthalate is one of the endocrine-disrupting chemicals found in many daily consumer products. Chronic exposure to phthalate may associate with obesity and metabolic abnormalities. However, there is limited information showing a direct relationship between phthalate and body compositions. The aim of the study was to determine the association between urinary phthalate concentration and body composition measure among Thai children. Methods A cross-sectional analytic study on urinary phthalate concentrations and body composition in elementary school children, aged 6–13 years in Bangkok, was conducted during October 2019 to 2020. Urinary phthalate metabolites; (mono-methyl phthalate-MMP, mono-ethyl phthalate- MEP, mono-buthyl phthalate-MBP, and mono-ethylhexyl phthalate-MEHP), in early morning spot urine samples were measured by liquid chromatography tandem mass spectrometry (LC-MSMS) with a quantitation limit of 1 ng/mL. Phthalate exposures were identified through questionnaires. Body composition was measured by Tanita BC-418®. Multivariate logistic regression analysis was performed to determine significant associations. Results A total of 364 children were enrolled in the study (boy 51.4%). After adjusting for confounders (sex, caregiver educations, family income, BMI-SDS: Body mass index-standard deviation score, TV watching, and exercise frequency), total urinary phthalate concentrations were associated with fat mass 8.24 (0.94, 15.53), trunk percent fat 7.69 (3.26, 12.12), arm percent fat 3.69 (0.47, 6.91), arm fat mass 72.88 (1.08, 144.67), and leg fat mass 17.79 (2.37, 33.22). Conclusions Higher urinary phthalate concentrations were significantly associated with elevated total fat mass among Thai school-aged children. These findings were not mediated through the degree of obesity defined by BMI. These finding emphasized to be careful when being use phthalate-containing products.
{"title":"Urinary phthalate concentrations are associated with total fat mass in Thai children","authors":"Ekkachai Nakaviroj, S. Aroonparkmongkol, S. Kunjan, Nutcha Sarutipaisarn, V. Supornsilchai","doi":"10.1515/jpem-2022-0083","DOIUrl":"https://doi.org/10.1515/jpem-2022-0083","url":null,"abstract":"Abstract Objectives Phthalate is one of the endocrine-disrupting chemicals found in many daily consumer products. Chronic exposure to phthalate may associate with obesity and metabolic abnormalities. However, there is limited information showing a direct relationship between phthalate and body compositions. The aim of the study was to determine the association between urinary phthalate concentration and body composition measure among Thai children. Methods A cross-sectional analytic study on urinary phthalate concentrations and body composition in elementary school children, aged 6–13 years in Bangkok, was conducted during October 2019 to 2020. Urinary phthalate metabolites; (mono-methyl phthalate-MMP, mono-ethyl phthalate- MEP, mono-buthyl phthalate-MBP, and mono-ethylhexyl phthalate-MEHP), in early morning spot urine samples were measured by liquid chromatography tandem mass spectrometry (LC-MSMS) with a quantitation limit of 1 ng/mL. Phthalate exposures were identified through questionnaires. Body composition was measured by Tanita BC-418®. Multivariate logistic regression analysis was performed to determine significant associations. Results A total of 364 children were enrolled in the study (boy 51.4%). After adjusting for confounders (sex, caregiver educations, family income, BMI-SDS: Body mass index-standard deviation score, TV watching, and exercise frequency), total urinary phthalate concentrations were associated with fat mass 8.24 (0.94, 15.53), trunk percent fat 7.69 (3.26, 12.12), arm percent fat 3.69 (0.47, 6.91), arm fat mass 72.88 (1.08, 144.67), and leg fat mass 17.79 (2.37, 33.22). Conclusions Higher urinary phthalate concentrations were significantly associated with elevated total fat mass among Thai school-aged children. These findings were not mediated through the degree of obesity defined by BMI. These finding emphasized to be careful when being use phthalate-containing products.","PeriodicalId":16746,"journal":{"name":"Journal of Pediatric Endocrinology and Metabolism","volume":"109 1","pages":"931 - 937"},"PeriodicalIF":0.0,"publicationDate":"2022-06-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72932634","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
E. Deberles, I. Durand, H. Mittre, Y. Reznik, J. Morera
Abstract Objectives Gynecomastia may be due to aromatase excess in several diseases such as obesity and cancer. Aromatase excess syndrome (AEXS) is an autosomal dominant disorder caused by overexpression of CYP19A1. Germinal mutations occurring in AEXS include various genomic rearrangements including duplication, deletion, and inversion identified in the upstream region of CYP19A1. Aromatase overexpression caused by a CYP19A1 somatic mutation has been rarely described. Methods Breast adipose tissue biopsies or surgical specimens were obtained from 19 subjects with gynecomastia. Aromatase quantification was performed by digital PCR and CYP19A1 sequencing by RACE PCR products. Results We observed localized aromatase overexpression (>10 fold greater than normal) in breast adipose tissue from three prepubertal males with gynecomastia out of the 19 cases. One carried a chromosomal rearrangement between CYP19A1 and DMXL2, consistent with AEXS. In the 2 others, the first exon of CYP19A1 contained 11 different tissue-specific promoter subtypes, specifically I.4 or I.3 normally expressed by adipose tissue, but also the placental I.2 promoter and the more ubiquitous I.7 which is usually expressed in breast cancer, uterine, and endothelial tissues. No differences in clinical or biochemical characteristics were observed between these 3 subjects and 16 others without aromatase overexpression. Conclusions We describe two cases of aromatase overexpression in breast adipose tissue associated with nonspecific promoter recruitment. Further investigations are necessary to understand the mechanisms involved in aberrant promoter selection.
{"title":"Local aromatase excess with recruitment of unusual promoters of CYP19A1 gene in prepubertal patients with gynecomastia","authors":"E. Deberles, I. Durand, H. Mittre, Y. Reznik, J. Morera","doi":"10.1515/jpem-2021-0757","DOIUrl":"https://doi.org/10.1515/jpem-2021-0757","url":null,"abstract":"Abstract Objectives Gynecomastia may be due to aromatase excess in several diseases such as obesity and cancer. Aromatase excess syndrome (AEXS) is an autosomal dominant disorder caused by overexpression of CYP19A1. Germinal mutations occurring in AEXS include various genomic rearrangements including duplication, deletion, and inversion identified in the upstream region of CYP19A1. Aromatase overexpression caused by a CYP19A1 somatic mutation has been rarely described. Methods Breast adipose tissue biopsies or surgical specimens were obtained from 19 subjects with gynecomastia. Aromatase quantification was performed by digital PCR and CYP19A1 sequencing by RACE PCR products. Results We observed localized aromatase overexpression (>10 fold greater than normal) in breast adipose tissue from three prepubertal males with gynecomastia out of the 19 cases. One carried a chromosomal rearrangement between CYP19A1 and DMXL2, consistent with AEXS. In the 2 others, the first exon of CYP19A1 contained 11 different tissue-specific promoter subtypes, specifically I.4 or I.3 normally expressed by adipose tissue, but also the placental I.2 promoter and the more ubiquitous I.7 which is usually expressed in breast cancer, uterine, and endothelial tissues. No differences in clinical or biochemical characteristics were observed between these 3 subjects and 16 others without aromatase overexpression. Conclusions We describe two cases of aromatase overexpression in breast adipose tissue associated with nonspecific promoter recruitment. Further investigations are necessary to understand the mechanisms involved in aberrant promoter selection.","PeriodicalId":16746,"journal":{"name":"Journal of Pediatric Endocrinology and Metabolism","volume":"29 1","pages":"924 - 930"},"PeriodicalIF":0.0,"publicationDate":"2022-06-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84734821","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
A. Alla, Farel Elilie Mawa Ongoth, Abir Tahiri, M. Karrou, S. Rouf, H. Benhaddou, I. Kamaoui, K. McElreavey, H. Latrech
Abstract Objectives We present the first cases of two male brothers with Leydig cell hypoplasia secondary to a novel mutation in the LHCGR gene that has never been described before. Case presentation We report the case of two brothers with Leydig cell hypoplasia (LCH) type II caused by novel homozygous inactivating mutation of the LHCGR gene, located in exon 10 in c 947 position. The two patients presented at 11 years 7 months and 1 year 6 months, respectively, with abnormal sexual development, micropenis and cryptorchidism. Genetic analysis revealed a homozygous deletion of approximately 4 bp encompassing exon 10 of the LHR gene in the two brothers indicating autosomal recessive inheritance. An hCG stimulation test induced testosterone secretion within the normal range. Subsequently, a treatment with enanthate of testosterone was started, with an increase in the length of the penis. Conclusions Leydig cell hypoplasia is a rare form of disorder of sex development. We report the occurrence of a new mutation of the LHCGR gene in two Moroccan brothers in whom the clinical features and the molecular diagnosis were correlated.
{"title":"Novel homozygous inactivating mutation in the luteinizing hormone receptor gene (LHCGR) associated with 46, XY DSD in a Moroccan family","authors":"A. Alla, Farel Elilie Mawa Ongoth, Abir Tahiri, M. Karrou, S. Rouf, H. Benhaddou, I. Kamaoui, K. McElreavey, H. Latrech","doi":"10.1515/jpem-2021-0717","DOIUrl":"https://doi.org/10.1515/jpem-2021-0717","url":null,"abstract":"Abstract Objectives We present the first cases of two male brothers with Leydig cell hypoplasia secondary to a novel mutation in the LHCGR gene that has never been described before. Case presentation We report the case of two brothers with Leydig cell hypoplasia (LCH) type II caused by novel homozygous inactivating mutation of the LHCGR gene, located in exon 10 in c 947 position. The two patients presented at 11 years 7 months and 1 year 6 months, respectively, with abnormal sexual development, micropenis and cryptorchidism. Genetic analysis revealed a homozygous deletion of approximately 4 bp encompassing exon 10 of the LHR gene in the two brothers indicating autosomal recessive inheritance. An hCG stimulation test induced testosterone secretion within the normal range. Subsequently, a treatment with enanthate of testosterone was started, with an increase in the length of the penis. Conclusions Leydig cell hypoplasia is a rare form of disorder of sex development. We report the occurrence of a new mutation of the LHCGR gene in two Moroccan brothers in whom the clinical features and the molecular diagnosis were correlated.","PeriodicalId":16746,"journal":{"name":"Journal of Pediatric Endocrinology and Metabolism","volume":"106 1","pages":"1215 - 1221"},"PeriodicalIF":0.0,"publicationDate":"2022-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78309448","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
A.E. Bozaci, H. Yazıcı, E. Canda, S. K. Uçar, M. Guvenc, A. Berdeli, S. Habif, M. Çoker
Abstract Objectives Alkaptonuria is a rare autosomal recessive genetic disorder resulting from the deficiency of homogentisate 1,2 dioxygenase (HGD), the third enzyme in the tyrosine degradation pathway. Homogentisic acid produced in excess oxidizes into ochronotic pigment polymer. Accumulation of this pigment in various tissues leads to systemic disease. Methods Clinical, laboratory, molecular findings and treatment characteristics of 35 patients followed up in Ege University Pediatric Nutrition, and Metabolism Department with the diagnosis of alkaptonuria were evaluated retrospectively. Results Twenty-four males (68.57%) and 11 females (31.42%) with a confirmed diagnosis of alkaptonuria from 32 different families were included in the study. We identified 11 different genetic variants; six of these were novel. c.1033C>T, c.676G>A, c.664G>A, c.731_734del, c.1009G>T, c.859_862delins ATAC were not previously reported in the literature. 24 (68.57%) patients only adhered to a low-protein diet in our study group. Seven (20%) patients initiated a low protein diet and NTBC therapy. Mean urinary HGA decreased by 88.7% with nitisinone. No statistical changes were detected in urinary HGA excretion with the low protein diet group. Conclusions In our study, alkaptonuria patients were diagnosed at different ages, from infancy to adulthood, and progressed with other systemic involvement in the follow-up. Since the initial period is asymptomatic, giving potentially effective treatment from an early age is under discussion. Raising disease awareness is very important in reducing disease mortality and morbidity rates.
{"title":"Long-term follow-up of alkaptonuria patients: single center experience","authors":"A.E. Bozaci, H. Yazıcı, E. Canda, S. K. Uçar, M. Guvenc, A. Berdeli, S. Habif, M. Çoker","doi":"10.1515/jpem-2022-0004","DOIUrl":"https://doi.org/10.1515/jpem-2022-0004","url":null,"abstract":"Abstract Objectives Alkaptonuria is a rare autosomal recessive genetic disorder resulting from the deficiency of homogentisate 1,2 dioxygenase (HGD), the third enzyme in the tyrosine degradation pathway. Homogentisic acid produced in excess oxidizes into ochronotic pigment polymer. Accumulation of this pigment in various tissues leads to systemic disease. Methods Clinical, laboratory, molecular findings and treatment characteristics of 35 patients followed up in Ege University Pediatric Nutrition, and Metabolism Department with the diagnosis of alkaptonuria were evaluated retrospectively. Results Twenty-four males (68.57%) and 11 females (31.42%) with a confirmed diagnosis of alkaptonuria from 32 different families were included in the study. We identified 11 different genetic variants; six of these were novel. c.1033C>T, c.676G>A, c.664G>A, c.731_734del, c.1009G>T, c.859_862delins ATAC were not previously reported in the literature. 24 (68.57%) patients only adhered to a low-protein diet in our study group. Seven (20%) patients initiated a low protein diet and NTBC therapy. Mean urinary HGA decreased by 88.7% with nitisinone. No statistical changes were detected in urinary HGA excretion with the low protein diet group. Conclusions In our study, alkaptonuria patients were diagnosed at different ages, from infancy to adulthood, and progressed with other systemic involvement in the follow-up. Since the initial period is asymptomatic, giving potentially effective treatment from an early age is under discussion. Raising disease awareness is very important in reducing disease mortality and morbidity rates.","PeriodicalId":16746,"journal":{"name":"Journal of Pediatric Endocrinology and Metabolism","volume":"40 1","pages":"913 - 923"},"PeriodicalIF":0.0,"publicationDate":"2022-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77727645","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Chunye Ma, Na Lu, Fan-Shuo Kong, Xu Zhang, Rui Wang, F. Yin
Abstract Objectives The purpose of this study was to observe the relationship between metabolic syndrome (MetS) and height (Ht) adjusted Z-scores for areal bone mineral density (aBMD) in adolescents. Methods A retrospective study was conducted on the United States adolescents aged 12–17 years. Data were extracted from the National Health and Nutrition Examination Survey (NHANES) 2011–2012, 2013–2014 and 2015–2016 cycles. Ht adjusted Z-scores for aBMD were calculated. Results A total of 969 adolescents (493 boys and 476 girls), aged 14.5 ± 1.7 years were enrolled in this study. After control for age, gender, race, 25-hydroxyvitamin D [25(OH)D], and lean body mass index (LBMI) Z-score, adolescents with MetS had significantly lower levels of total body (less head) aBMD Ht-Z-adjusted Z-score than adolescents with one, two components of MetS and without component of MetS (p<0.05) and significantly lower levels of lumbar spine aBMD Ht-Z-adjusted Z-score than adolescents with one component of MetS and without component of MetS (p<0.05). There were significantly negative associations between total body (less head) aBMD Ht-Z-adjusted Z-score and waist circumference (WC) (β=−0.027, p<0.001, R2=0.057) and homeostasis model assessment insulin resistance (HOMA-IR) (β=−0.225, p<0.001, R2=0.016). There were significantly negative associations between lumbar spine aBMD Ht-Z-adjusted Z-score and WC (β=−0.039, p<0.001, R2=0.058) and HOMA-IR (β=−0.251, p<0.001, R2=0.008). Conclusions The present study demonstrates that MetS may have a negative effect on bone mineral density in adolescents. Abdominal obesity and insulin resistance play a major role on the decline of aBMD in adolescents.
{"title":"The relationship between metabolic syndrome and bone mineral density in adolescents: analysis of the National Health and Nutrition Examination Survey","authors":"Chunye Ma, Na Lu, Fan-Shuo Kong, Xu Zhang, Rui Wang, F. Yin","doi":"10.1515/jpem-2022-0087","DOIUrl":"https://doi.org/10.1515/jpem-2022-0087","url":null,"abstract":"Abstract Objectives The purpose of this study was to observe the relationship between metabolic syndrome (MetS) and height (Ht) adjusted Z-scores for areal bone mineral density (aBMD) in adolescents. Methods A retrospective study was conducted on the United States adolescents aged 12–17 years. Data were extracted from the National Health and Nutrition Examination Survey (NHANES) 2011–2012, 2013–2014 and 2015–2016 cycles. Ht adjusted Z-scores for aBMD were calculated. Results A total of 969 adolescents (493 boys and 476 girls), aged 14.5 ± 1.7 years were enrolled in this study. After control for age, gender, race, 25-hydroxyvitamin D [25(OH)D], and lean body mass index (LBMI) Z-score, adolescents with MetS had significantly lower levels of total body (less head) aBMD Ht-Z-adjusted Z-score than adolescents with one, two components of MetS and without component of MetS (p<0.05) and significantly lower levels of lumbar spine aBMD Ht-Z-adjusted Z-score than adolescents with one component of MetS and without component of MetS (p<0.05). There were significantly negative associations between total body (less head) aBMD Ht-Z-adjusted Z-score and waist circumference (WC) (β=−0.027, p<0.001, R2=0.057) and homeostasis model assessment insulin resistance (HOMA-IR) (β=−0.225, p<0.001, R2=0.016). There were significantly negative associations between lumbar spine aBMD Ht-Z-adjusted Z-score and WC (β=−0.039, p<0.001, R2=0.058) and HOMA-IR (β=−0.251, p<0.001, R2=0.008). Conclusions The present study demonstrates that MetS may have a negative effect on bone mineral density in adolescents. Abdominal obesity and insulin resistance play a major role on the decline of aBMD in adolescents.","PeriodicalId":16746,"journal":{"name":"Journal of Pediatric Endocrinology and Metabolism","volume":"107 1","pages":"901 - 912"},"PeriodicalIF":0.0,"publicationDate":"2022-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"91516985","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Shruti A. Mondkar, C. Oza, V. Khadilkar, Nikhil Shah, K. Gondhalekar, N. Kajale, A. Khadilkar
Abstract Objectives Owing to increase in referrals for precocity observed during COVID-19 lockdown, this study was conducted to estimate the proportion of patients referred for precocity and within these, those with idiopathic central precocious puberty (iCPP) before vs. during the COVID lockdown, and to assess the differences in anthropometric and clinical characteristics among iCPP patients in the two groups. Methods Retrospective study conducted at a tertiary level paediatric endocrinology centre (Western India) evaluating proportion of referrals for precocity and comparing demographics, anthropometry, pubertal staging and bone age at presentation among children with iCPP divided into two groups (pre-lockdown-group 1, lockdown-group 2). Results During lockdown, 155 (5.1%; 146 girls) of 3,053 referrals for precocity as opposed to 59 (1.4%; 54 girls) of 4,208 before the lockdown (p<0.05) were seen; increase was higher in girls (p<0.05). Proportion of referrals for iCPP was significantly higher in the lockdown (4.4%; 136 children vs. 1%; 44 children in group 2) among both genders. Mean age at first visit was 7.8 ± 1.3 and 8.2 ± 1.2 years in groups 1 and 2, respectively. Mean height, weight, BMI and height minus mid-parental height Z scores were not significantly different between the groups. Children in group 2 had a significantly advanced mean bone age (10.7 ± 2 years) and difference in bone and chronological ages (2.5 ± 1.2 years) as compared to group-1 (9.7 ± 1.9; 1.9 ± 1.2) and a larger proportion presented in late puberty. Conclusions We found an increase in the referrals for precocious puberty and an increase in number of children diagnosed with iCPP during COVID lockdown.
{"title":"Impact of COVID-19 lockdown on idiopathic central precocious puberty – experience from an Indian centre","authors":"Shruti A. Mondkar, C. Oza, V. Khadilkar, Nikhil Shah, K. Gondhalekar, N. Kajale, A. Khadilkar","doi":"10.1515/jpem-2022-0157","DOIUrl":"https://doi.org/10.1515/jpem-2022-0157","url":null,"abstract":"Abstract Objectives Owing to increase in referrals for precocity observed during COVID-19 lockdown, this study was conducted to estimate the proportion of patients referred for precocity and within these, those with idiopathic central precocious puberty (iCPP) before vs. during the COVID lockdown, and to assess the differences in anthropometric and clinical characteristics among iCPP patients in the two groups. Methods Retrospective study conducted at a tertiary level paediatric endocrinology centre (Western India) evaluating proportion of referrals for precocity and comparing demographics, anthropometry, pubertal staging and bone age at presentation among children with iCPP divided into two groups (pre-lockdown-group 1, lockdown-group 2). Results During lockdown, 155 (5.1%; 146 girls) of 3,053 referrals for precocity as opposed to 59 (1.4%; 54 girls) of 4,208 before the lockdown (p<0.05) were seen; increase was higher in girls (p<0.05). Proportion of referrals for iCPP was significantly higher in the lockdown (4.4%; 136 children vs. 1%; 44 children in group 2) among both genders. Mean age at first visit was 7.8 ± 1.3 and 8.2 ± 1.2 years in groups 1 and 2, respectively. Mean height, weight, BMI and height minus mid-parental height Z scores were not significantly different between the groups. Children in group 2 had a significantly advanced mean bone age (10.7 ± 2 years) and difference in bone and chronological ages (2.5 ± 1.2 years) as compared to group-1 (9.7 ± 1.9; 1.9 ± 1.2) and a larger proportion presented in late puberty. Conclusions We found an increase in the referrals for precocious puberty and an increase in number of children diagnosed with iCPP during COVID lockdown.","PeriodicalId":16746,"journal":{"name":"Journal of Pediatric Endocrinology and Metabolism","volume":"3 1","pages":"895 - 900"},"PeriodicalIF":0.0,"publicationDate":"2022-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81327437","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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