Harshal Deshmukh, Emmanuel Ssemmondo, Kazeem Adeleke, Shiva Mongolu, Mo Aye, Steve Orme, Daniel Flanagan, Prakash Abraham, Claire Higham, Thozhukat Sathyapalan, UK Acromegaly Register Study (UKAR) Group
Objective
This study aimed to understand the effect of time to remission of acromegaly on survival in people living with acromegaly.
Design, Patients and Measurement
This cross-sectional study used data from the UK Acromegaly Register. We considered remission of acromegaly growth hormone controlled at ≤2 μg/L following the diagnosis of acromegaly. We used the accelerated failure time model to assess the effect of time to remission on survival in acromegaly.
Results
The study population comprises 3569 individuals with acromegaly, with a median age of diagnosis of 47.3 (36.5–57.8) years, 48% females and a majority white population (61%). The number of individuals with the first remission of acromegaly was 2472, and the median time to first remission was 1.92 (0.70–6.58) years. In this study, time to first remission in acromegaly was found to have a significant effect on survival (p < .001); for every 1-year increase in time to first remission, there was a median 1% reduction in survival in acromegaly. In an analysis adjusted for covariates, the survival rate was 52% higher (p < .001) in those who underwent surgery as compared to those who did not have surgery, 18% higher (p = .01) in those who received treatment with somatostatin analogues (SMA) as compared to those with dopamine agonists and 21% lower (p < .001) in those who received conventional radiotherapy as compared to those who did not receive radiotherapy.
Conclusion
In conclusion, this population-based study conducted in patients with acromegaly revealed that faster remission time, surgical intervention and treatment with SMA are linked to improved survival outcomes.
目的：本研究旨在了解肢端肥大症缓解时间对肢端肥大症患者生存期的影响：本研究旨在了解肢端肥大症缓解时间对肢端肥大症患者生存期的影响：这项横断面研究使用了英国肢端肥大症登记处的数据。我们认为，在确诊肢端肥大症后，生长激素控制在≤2 μg/L时，肢端肥大症病情缓解。我们使用加速失败时间模型来评估缓解时间对肢端肥大症患者生存率的影响：研究对象包括3569名肢端肥大症患者，确诊年龄中位数为47.3（36.5-57.8）岁，女性占48%，白人占多数（61%）。肢端肥大症首次缓解的人数为 2472 人，首次缓解的中位时间为 1.92（0.70-6.58）年。研究发现，肢端肥大症的首次缓解时间对患者的生存率有显著影响（p 结论：肢端肥大症的首次缓解时间对患者的生存率有显著影响：总之，这项针对肢端肥大症患者的人群研究显示，加快缓解时间、手术干预和使用 SMA 治疗与改善生存结果有关。
{"title":"Time to first remission and survival in patients with acromegaly: Evidence from the UK Acromegaly Register Study (UKAR)","authors":"Harshal Deshmukh, Emmanuel Ssemmondo, Kazeem Adeleke, Shiva Mongolu, Mo Aye, Steve Orme, Daniel Flanagan, Prakash Abraham, Claire Higham, Thozhukat Sathyapalan, UK Acromegaly Register Study (UKAR) Group","doi":"10.1111/cen.15112","DOIUrl":"10.1111/cen.15112","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>This study aimed to understand the effect of time to remission of acromegaly on survival in people living with acromegaly.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Design, Patients and Measurement</h3>\u0000 \u0000 <p>This cross-sectional study used data from the UK Acromegaly Register. We considered remission of acromegaly growth hormone controlled at ≤2 μg/L following the diagnosis of acromegaly. We used the accelerated failure time model to assess the effect of time to remission on survival in acromegaly.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The study population comprises 3569 individuals with acromegaly, with a median age of diagnosis of 47.3 (36.5–57.8) years, 48% females and a majority white population (61%). The number of individuals with the first remission of acromegaly was 2472, and the median time to first remission was 1.92 (0.70–6.58) years. In this study, time to first remission in acromegaly was found to have a significant effect on survival (<i>p</i> < .001); for every 1-year increase in time to first remission, there was a median 1% reduction in survival in acromegaly. In an analysis adjusted for covariates, the survival rate was 52% higher (<i>p</i> < .001) in those who underwent surgery as compared to those who did not have surgery, 18% higher (<i>p</i> = .01) in those who received treatment with somatostatin analogues (SMA) as compared to those with dopamine agonists and 21% lower (<i>p</i> < .001) in those who received conventional radiotherapy as compared to those who did not receive radiotherapy.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>In conclusion, this population-based study conducted in patients with acromegaly revealed that faster remission time, surgical intervention and treatment with SMA are linked to improved survival outcomes.</p>\u0000 </section>\u0000 </div>","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":null,"pages":null},"PeriodicalIF":3.0,"publicationDate":"2024-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141619474","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Hypophosphatasia (HPP) is a rare, inherited, and systemic disorder characterized by impaired skeletal mineralization and low tissue nonspecific serum alkaline phosphatase (TNSALP) activity. It is caused by either autosomal recessive or dominant-negative mutations in the gene that encodes TNSALP. The phenotype of HPP is very broad including abnormal bone mineralization, disturbances of calcium and phosphate metabolism, pain, recurrent fracture, short stature, respiratory impairment, developmental delay, tooth loss, seizures, and premature death. Other than supportive care, there has been no disease-specific treatment available for those with HPP. Asfotase alfa is a fully humanized, recombinant enzyme replacement therapy for the management of HPP. It is available in several countries for the treatment of the more severe forms of HPP, namely perinatal and infantile HPP. This review will summarize the preclinical data on asfotase alfa and highlight the data from clinical trials and case reports. These data show the transformative nature of asfotase alfa when administered as part of an interdisciplinary treatment model.
{"title":"Enzyme replacement therapy for hypophosphatasia—The current paradigm","authors":"Aaron Schindeler, Karissa Ludwig, Craig F. Munns","doi":"10.1111/cen.15063","DOIUrl":"10.1111/cen.15063","url":null,"abstract":"<p>Hypophosphatasia (HPP) is a rare, inherited, and systemic disorder characterized by impaired skeletal mineralization and low tissue nonspecific serum alkaline phosphatase (TNSALP) activity. It is caused by either autosomal recessive or dominant-negative mutations in the gene that encodes TNSALP. The phenotype of HPP is very broad including abnormal bone mineralization, disturbances of calcium and phosphate metabolism, pain, recurrent fracture, short stature, respiratory impairment, developmental delay, tooth loss, seizures, and premature death. Other than supportive care, there has been no disease-specific treatment available for those with HPP. Asfotase alfa is a fully humanized, recombinant enzyme replacement therapy for the management of HPP. It is available in several countries for the treatment of the more severe forms of HPP, namely perinatal and infantile HPP. This review will summarize the preclinical data on asfotase alfa and highlight the data from clinical trials and case reports. These data show the transformative nature of asfotase alfa when administered as part of an interdisciplinary treatment model.</p>","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":null,"pages":null},"PeriodicalIF":3.0,"publicationDate":"2024-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cen.15063","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141615998","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Jun Mori, Yasuhisa Ohata, Yasuko Fujisawa, Yukihito Sato, Sebastian Röhrich, Michael Højby Rasmussen, Rikke Beck Bang, Reiko Horikawa
The cover image is based on the Original Article Effective growth hormone replacement with once-weekly somapacitan in Japanese children with growth hormone deficiency: Results from REAL4, a phase 3 clinical trial by Jun Mori et al., https://doi.org/10.1111/cen.15025.
{"title":"Cover Image, Volume 100, Number 4, April 2024","authors":"Jun Mori, Yasuhisa Ohata, Yasuko Fujisawa, Yukihito Sato, Sebastian Röhrich, Michael Højby Rasmussen, Rikke Beck Bang, Reiko Horikawa","doi":"10.1111/cen.15113","DOIUrl":"10.1111/cen.15113","url":null,"abstract":"<p>The cover image is based on the Original Article <i>Effective growth hormone replacement with once-weekly somapacitan in Japanese children with growth hormone deficiency: Results from REAL4, a phase 3 clinical trial</i> by Jun Mori et al., https://doi.org/10.1111/cen.15025.\u0000\u0000 <figure>\u0000 <div><picture>\u0000 <source></source></picture><p></p>\u0000 </div>\u0000 </figure></p>","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":null,"pages":null},"PeriodicalIF":3.0,"publicationDate":"2024-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cen.15113","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141517713","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Reproductive hormones might impact disease course in cognitive decline. We examined the association between male and female endogenous reproductive hormones and subjective cognitive decline (SCD) score.
Design, Patients and Measurements
A cross-sectional study design was used with baseline data from the Pingyin cohort study, involving 1943 participants aged 45–70 years. Oestrogen (E2), testosterone, follicle stimulating hormone (FSH) and luteinizing hormone (LH) were measured in females and E2 and testosterone were measured in males. We categorised hormones into three levels of low, intermediate and high level. The 9-item subjective cognitive decline questionnaire (SCD-Q9) scores were collected to assess the symptoms of SCD. Multivariable logistic regression models were used to estimate odds ratios (ORs) and 95% confidence interval (CI) between categorised hormone levels and SCD status. Multivariable linear regression models were also used.
Results
Overall, 1943 participants were involved and 1285 (66.1%) were female. The mean age at baseline was 59.1 (standard deviation 7.1) years. Women with high testosterone levels had a higher probability of having SCD compared with those with low testosterone levels (OR 1.43, 95% CI 1.01–2.05). Men with a high level of testosterone (0.59, 0.35–0.98) and high testosterone/E2 ratio (0.55, 0.33–0.90) were related to decreased chances of having SCD. Each one-unit increase of testosterone was linked to reduced SCD score in males [(β: −.029, 95% CI (−0.052, −0.007)].
Conclusion
There was sex-specific relationship between hormone levels and SCD abnormal. Those with higher testosterone levels in females may increase likelihood of experiencing SCD. Males with higher testosterone levels and higher testosterone/E2 ratio may be associated with reduced likelihood of SCD. The roles of endogenous reproductive hormone levels and their dynamic changes in cognitive function need further investigation.
{"title":"The relationship between male and female endogenous reproductive hormones levels and subjective cognitive decline score: A cross-sectional analysis of the Pingyin cohort study","authors":"Qi Wang, Ruihong Yu, Chunying Fu, Meiling Li, Xiaoyi Wang, Dongshan Zhu","doi":"10.1111/cen.15104","DOIUrl":"10.1111/cen.15104","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Reproductive hormones might impact disease course in cognitive decline. We examined the association between male and female endogenous reproductive hormones and subjective cognitive decline (SCD) score.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Design, Patients and Measurements</h3>\u0000 \u0000 <p>A cross-sectional study design was used with baseline data from the Pingyin cohort study, involving 1943 participants aged 45–70 years. Oestrogen (E2), testosterone, follicle stimulating hormone (FSH) and luteinizing hormone (LH) were measured in females and E2 and testosterone were measured in males. We categorised hormones into three levels of low, intermediate and high level. The 9-item subjective cognitive decline questionnaire (SCD-Q9) scores were collected to assess the symptoms of SCD. Multivariable logistic regression models were used to estimate odds ratios (ORs) and 95% confidence interval (CI) between categorised hormone levels and SCD status. Multivariable linear regression models were also used.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Overall, 1943 participants were involved and 1285 (66.1%) were female. The mean age at baseline was 59.1 (standard deviation 7.1) years. Women with high testosterone levels had a higher probability of having SCD compared with those with low testosterone levels (OR 1.43, 95% CI 1.01–2.05). Men with a high level of testosterone (0.59, 0.35–0.98) and high testosterone/E2 ratio (0.55, 0.33–0.90) were related to decreased chances of having SCD. Each one-unit increase of testosterone was linked to reduced SCD score in males [(<i>β</i>: −.029, 95% CI (−0.052, −0.007)].</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>There was sex-specific relationship between hormone levels and SCD abnormal. Those with higher testosterone levels in females may increase likelihood of experiencing SCD. Males with higher testosterone levels and higher testosterone/E2 ratio may be associated with reduced likelihood of SCD. The roles of endogenous reproductive hormone levels and their dynamic changes in cognitive function need further investigation.</p>\u0000 </section>\u0000 </div>","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":null,"pages":null},"PeriodicalIF":3.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141476067","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Tugba Barlas, Isil Imge Gultekin, Sabri Engin Altintop, Emetullah Cindil, Mehmet Muhittin Yalcin, Ethem Turgay Cerit, Tevfik Sinan Sozen, Aylar Poyraz, Alev Eroglu Altinova, Fusun Balos Toruner, Mehmet Ayhan Karakoc, Mujde Akturk
Objective
To investigate the clinical, laboratory findings and signal intensity index (SII) on magnetic resonance imaging (MRI) of patients with bilateral and unilateral macronodular mild autonomous cortisol secretion (MACS).
Patients and Measurements
Clinical and laboratory findings of 81 patients with MACS were examined from retrospective records. SII of adenomas and internodular areas were evaluated by MRI. The unilateral group included patients with an adrenal macronodule (≥1 cm) in a single adrenal gland, while the bilateral group included patients with at least one macronodule in both adrenal glands.
Results
In total, 46 patients were in the unilateral (57%), while 35 (43%) patients were in the bilateral groups. The dehydroepiandrosterone sulphate (DHEA-S) level was lower in the unilateral than in the bilateral group (p < .001). The presence of type 2 diabetes mellitus (T2DM), glycosylated haemoglobin (HbA1c) and low-density lipoprotein (LDL) concentrations were higher in the bilateral group (p < .05). However, no significant difference was detected in terms of adrenocorticotropic hormone (ACTH) and overnight 1 mg dexamethasone suppression test (DST) between the two groups (p > .05). There was no difference in SII between adenomas within the same patient, as well as between the unilateral and bilateral groups (p > .05). Logistic regression analysis based on the differentiation between unilateral and bilateral macronodular MACS demonstrated that DHEA-S, HbA1c and LDL concentrations were associated factors.
Conclusion
DHEA-S levels may not be as suppressed in patients with bilateral macronodular MACS as compared to those with unilateral adenoma. T2DM and hypercholesterolaemia have a higher frequency in bilateral patients. However, ACTH, overnight 1 mg DST and SII may not provide additional information for differentiation of bilaterality and unilaterality.
{"title":"Beyond symptomatology: A comparative analysis of unilateral and bilateral macronodular mild autonomous cortisol secretion","authors":"Tugba Barlas, Isil Imge Gultekin, Sabri Engin Altintop, Emetullah Cindil, Mehmet Muhittin Yalcin, Ethem Turgay Cerit, Tevfik Sinan Sozen, Aylar Poyraz, Alev Eroglu Altinova, Fusun Balos Toruner, Mehmet Ayhan Karakoc, Mujde Akturk","doi":"10.1111/cen.15109","DOIUrl":"10.1111/cen.15109","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>To investigate the clinical, laboratory findings and signal intensity index (SII) on magnetic resonance imaging (MRI) of patients with bilateral and unilateral macronodular mild autonomous cortisol secretion (MACS).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Patients and Measurements</h3>\u0000 \u0000 <p>Clinical and laboratory findings of <span>81</span> patients with MACS were examined from retrospective records. SII of adenomas and internodular areas were evaluated by MRI. The unilateral group included patients with an adrenal macronodule (≥1 cm) in a single adrenal gland, while the bilateral group included patients with at least one macronodule in both adrenal glands.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>In total, 46 patients were in the unilateral (57%), while 35 (43%) patients were in the bilateral groups. The dehydroepiandrosterone sulphate (DHEA-S) level was lower in the unilateral than in the bilateral group (<i>p</i> < .001). The presence of type 2 diabetes mellitus (T2DM), glycosylated haemoglobin (HbA1c) and low-density lipoprotein (LDL) concentrations were higher in the bilateral group (<i>p</i> < .05). However, no significant difference was detected in terms of adrenocorticotropic hormone (ACTH) and overnight 1 mg dexamethasone suppression test (DST) between the two groups (<i>p</i> > .05). There was no difference in SII between adenomas within the same patient, as well as between the unilateral and bilateral groups (<i>p</i> > .05). Logistic regression analysis based on the differentiation between unilateral and bilateral macronodular MACS demonstrated that DHEA-S, HbA1c and LDL concentrations were associated factors.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>DHEA-S levels may not be as suppressed in patients with bilateral macronodular MACS as compared to those with unilateral adenoma. T2DM and hypercholesterolaemia have a higher frequency in bilateral patients. However, ACTH, overnight 1 mg DST and SII may not provide additional information for differentiation of bilaterality and unilaterality.</p>\u0000 </section>\u0000 </div>","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":null,"pages":null},"PeriodicalIF":3.0,"publicationDate":"2024-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141466534","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Adrian H. Heald, John Bassett, Nuria Puente-Ruiz, Peter Clayton, Karolina M. Stepien
<p><b>Letter to the Editor</b></p><p>Inherited metabolic diseases (IMDs) are a group of heterogenous genetic disorders resulting in substrate accumulation, energy deficiency or complex molecular defects due to the failure of specific molecules to act as enzymes, cofactors, transporters, or receptors in specific metabolic pathways.<span><sup>1, 2</sup></span> The pathophysiological changes seen in IMDs are on a cellular or sub-cellular level and therefore affect different systems, not just affecting a single organ. The majority of IMDs exhibit a recessive mode of inheritance.<span><sup>3</sup></span> Despite each disorder being considered rare and affecting only a small cohort of patients, the combined occurrence of various rare diseases leads to a noteworthy prevalence of 1 in 784 live births.<span><sup>4, 5</sup></span> The number of adult patients with an IMD is increasing due to newborn screening and improved treatments in childhood, adolescence and adulthood<span><sup>6</sup></span> leading to increased survival rates.</p><p>Endocrine disorders are commonly encountered in IMDs but are underrecognized.<span><sup>4</sup></span> Endocrine disorders may present following diagnosis in childhood or in adults where there is multi-system or multigland involvement, before any metabolic diagnosis being made. Endocrinopathies may be secondary to treatment (e.g., due to chemotherapy used for hematopoietic stem cell therapy [HSCT] to treat IMDs). The most common endocrinopathies are type 1 and type 2 diabetes mellitus, hypogonadism, adrenal insufficiency, and thyroid dysfunction.<span><sup>7</sup></span></p><p>Given the physical and psychological burden of these conditions and the advent of new treatments for IMDs that may affect the endocrine system, it is important that clinicians are aware of the potential endocrine manifestations of IMDs and how best to screen for/manage these challenges.</p><p>In our hospital, which is a tertiary referral centre for endocrinology and IMD, patients are identified in both dedicated metabolic and endocrinology clinics. Once identified they are reviewed in a joint supra-regional endocrinology/metabolic clinic by an adult IMD physician as well as an endocrinologist with input from specialist dietitians, physiotherapy and the clinical biochemistry laboratory. Where necessary, other are involved in decisions about ongoing patient management in the short and the longer term.</p><p>To characterise the nature of the patient presentations in the joint endocrinology/metabolic clinic, the clinical and biochemical details have been tabulated in Table 1. Data were categorised by metabolic disorder and further grouped by type of endocrinopathy seen. Where a mechanism for the IMD-associated endocrinopathy is known, this is included in the table as are relevant biochemical findings and the implemented management plans. We have confined our description to patients being seen as adults (≥16 years old) although most of them were diagnose
{"title":"Endocrine disorders in adult patients with inherited metabolic diseases: Their diagnosis and long-term management","authors":"Adrian H. Heald, John Bassett, Nuria Puente-Ruiz, Peter Clayton, Karolina M. Stepien","doi":"10.1111/cen.15100","DOIUrl":"10.1111/cen.15100","url":null,"abstract":"<p><b>Letter to the Editor</b></p><p>Inherited metabolic diseases (IMDs) are a group of heterogenous genetic disorders resulting in substrate accumulation, energy deficiency or complex molecular defects due to the failure of specific molecules to act as enzymes, cofactors, transporters, or receptors in specific metabolic pathways.<span><sup>1, 2</sup></span> The pathophysiological changes seen in IMDs are on a cellular or sub-cellular level and therefore affect different systems, not just affecting a single organ. The majority of IMDs exhibit a recessive mode of inheritance.<span><sup>3</sup></span> Despite each disorder being considered rare and affecting only a small cohort of patients, the combined occurrence of various rare diseases leads to a noteworthy prevalence of 1 in 784 live births.<span><sup>4, 5</sup></span> The number of adult patients with an IMD is increasing due to newborn screening and improved treatments in childhood, adolescence and adulthood<span><sup>6</sup></span> leading to increased survival rates.</p><p>Endocrine disorders are commonly encountered in IMDs but are underrecognized.<span><sup>4</sup></span> Endocrine disorders may present following diagnosis in childhood or in adults where there is multi-system or multigland involvement, before any metabolic diagnosis being made. Endocrinopathies may be secondary to treatment (e.g., due to chemotherapy used for hematopoietic stem cell therapy [HSCT] to treat IMDs). The most common endocrinopathies are type 1 and type 2 diabetes mellitus, hypogonadism, adrenal insufficiency, and thyroid dysfunction.<span><sup>7</sup></span></p><p>Given the physical and psychological burden of these conditions and the advent of new treatments for IMDs that may affect the endocrine system, it is important that clinicians are aware of the potential endocrine manifestations of IMDs and how best to screen for/manage these challenges.</p><p>In our hospital, which is a tertiary referral centre for endocrinology and IMD, patients are identified in both dedicated metabolic and endocrinology clinics. Once identified they are reviewed in a joint supra-regional endocrinology/metabolic clinic by an adult IMD physician as well as an endocrinologist with input from specialist dietitians, physiotherapy and the clinical biochemistry laboratory. Where necessary, other are involved in decisions about ongoing patient management in the short and the longer term.</p><p>To characterise the nature of the patient presentations in the joint endocrinology/metabolic clinic, the clinical and biochemical details have been tabulated in Table 1. Data were categorised by metabolic disorder and further grouped by type of endocrinopathy seen. Where a mechanism for the IMD-associated endocrinopathy is known, this is included in the table as are relevant biochemical findings and the implemented management plans. We have confined our description to patients being seen as adults (≥16 years old) although most of them were diagnose","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":null,"pages":null},"PeriodicalIF":3.0,"publicationDate":"2024-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cen.15100","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141466535","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Emily Griffing, Kelsee Halpin, Brian R. Lee, Emily Paprocki
Objectives
Children with Prader-Willi Syndrome (PWS) may develop premature pubarche (PP). We investigated the frequency of PP, and its potential precursors and sequelae, in PWS.
Design, Patients and Measurements
A chart review of children with PWS treated at our institution between 1990 and 2021 was performed. PP was defined as Tanner stage 2 (TS2) pubic hair in girls <8 and boys <9 years old. Demographic, anthropometric, and laboratory data were collected to assess predisposing factors and consequences of PP in comparison to patients with PWS who had normal pubarche (NP).
Results
Analysis included 43 children with PWS, 23 (53.5%) with PP and 20 (46.5%) with NP. Median age at pubarche was 7.0 years in PP group and 10.0 years in NP group. Age at pubarche was not correlated with age of recombinant human growth hormone (rhGH) initiation, body mass index (BMI) z-score, or homeostasis model assessment of insulin resistance (HOMA-IR) at pubarche. BMI z-score at pubarche was modestly correlated with degree of pubarchal BA advancement (p = 0.033). Those with PP were more likely to have a lower high-density lipoprotein (HDL) (1.05 mmol/L vs. 1.41 mmol/L in the NP group, p = 0.041). The difference between target and final height did not differ between groups (p = 0.507).
Conclusion
PP is common in PWS but does not compromise final height in comparison to the NP group. Obesity and insulin resistance were not associated with PP in children with PWS, contrary to what has been seen in obese children without PWS.
目的：患有普拉德-威利综合征（PWS）的儿童可能会出现性早熟（PP）。我们调查了PWS患儿出现PP的频率及其潜在的前兆和后遗症：我们对1990年至2021年间在本院接受治疗的PWS患儿进行了病历回顾。PP定义为女孩坦纳第二阶段（TS2）阴毛：分析包括43名患有PWS的儿童，其中23名（53.5%）患有PP，20名（46.5%）患有NP。PP组的初潮年龄中位数为7.0岁，NP组的初潮年龄中位数为10.0岁。青春期年龄与开始使用重组人生长激素（rhGH）的年龄、青春期体重指数（BMI）z-分数或胰岛素抵抗稳态模型评估（HOMA-IR）无关。青春期时的体重指数 z 值与青春期 BA 发育程度略有相关（p = 0.033）。PP患者的高密度脂蛋白（HDL）更低（1.05 mmol/L，NP组为1.41 mmol/L，p = 0.041）。目标身高和最终身高之间的差异在各组之间没有差异（p = 0.507）：结论：PP在PWS中很常见，但与NP组相比，PP不会影响最终身高。肥胖和胰岛素抵抗与PWS患儿的PP无关，这与非PWS肥胖儿童的情况相反。
{"title":"Premature pubarche in Prader-Willi syndrome: Risk factors and consequences","authors":"Emily Griffing, Kelsee Halpin, Brian R. Lee, Emily Paprocki","doi":"10.1111/cen.15108","DOIUrl":"10.1111/cen.15108","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objectives</h3>\u0000 \u0000 <p>Children with Prader-Willi Syndrome (PWS) may develop premature pubarche (PP). We investigated the frequency of PP, and its potential precursors and sequelae, in PWS.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Design, Patients and Measurements</h3>\u0000 \u0000 <p>A chart review of children with PWS treated at our institution between 1990 and 2021 was performed. PP was defined as Tanner stage 2 (TS2) pubic hair in girls <8 and boys <9 years old. Demographic, anthropometric, and laboratory data were collected to assess predisposing factors and consequences of PP in comparison to patients with PWS who had normal pubarche (NP).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Analysis included 43 children with PWS, 23 (53.5%) with PP and 20 (46.5%) with NP. Median age at pubarche was 7.0 years in PP group and 10.0 years in NP group. Age at pubarche was not correlated with age of recombinant human growth hormone (rhGH) initiation, body mass index (BMI) z-score, or homeostasis model assessment of insulin resistance (HOMA-IR) at pubarche. BMI z-score at pubarche was modestly correlated with degree of pubarchal BA advancement (<i>p</i> = 0.033). Those with PP were more likely to have a lower high-density lipoprotein (HDL) (1.05 mmol/L vs. 1.41 mmol/L in the NP group, <i>p</i> = 0.041). The difference between target and final height did not differ between groups (<i>p</i> = 0.507).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>PP is common in PWS but does not compromise final height in comparison to the NP group. Obesity and insulin resistance were not associated with PP in children with PWS, contrary to what has been seen in obese children without PWS.</p>\u0000 </section>\u0000 </div>","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":null,"pages":null},"PeriodicalIF":3.0,"publicationDate":"2024-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141466536","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Channa N. Jayasena, Kerri Devine, Katie Barber, Alexander N. Comninos, Gerard S. Conway, Anna Crown, Melanie C. Davies, Ann Ewart, Leighton J. Seal, Arlene Smyth, Helen E. Turner, Lisa Webber, Richard A. Anderson, Richard Quinton
Female hypogonadism (FH) is a relatively common endocrine disorder in women of premenopausal age, but there are significant uncertainties and wide variation in its management. Most current guidelines are monospecialty and only address premature ovarian insufficiency (POI); some allude to management in very brief and general terms, and most rely upon the extrapolation of evidence from the studies relating to physiological estrogen deficiency in postmenopausal women. The Society for Endocrinology commissioned new guidance to provide all care providers with a multidisciplinary perspective on managing patients with all forms of FH. It has been compiled using expertise from Endocrinology, Primary Care, Gynaecology and Reproductive Health practices, with contributions from expert patients and a patient support group, to help clinicians best manage FH resulting from both POI and hypothalamo-pituitary disorders, whether organic or functional.
{"title":"Society for endocrinology guideline for understanding, diagnosing and treating female hypogonadism","authors":"Channa N. Jayasena, Kerri Devine, Katie Barber, Alexander N. Comninos, Gerard S. Conway, Anna Crown, Melanie C. Davies, Ann Ewart, Leighton J. Seal, Arlene Smyth, Helen E. Turner, Lisa Webber, Richard A. Anderson, Richard Quinton","doi":"10.1111/cen.15097","DOIUrl":"10.1111/cen.15097","url":null,"abstract":"<p>Female hypogonadism (FH) is a relatively common endocrine disorder in women of premenopausal age, but there are significant uncertainties and wide variation in its management. Most current guidelines are monospecialty and only address premature ovarian insufficiency (POI); some allude to management in very brief and general terms, and most rely upon the extrapolation of evidence from the studies relating to physiological estrogen deficiency in postmenopausal women. The Society for Endocrinology commissioned new guidance to provide all care providers with a multidisciplinary perspective on managing patients with all forms of FH. It has been compiled using expertise from Endocrinology, Primary Care, Gynaecology and Reproductive Health practices, with contributions from expert patients and a patient support group, to help clinicians best manage FH resulting from both POI and hypothalamo-pituitary disorders, whether organic or functional.</p>","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":null,"pages":null},"PeriodicalIF":3.0,"publicationDate":"2024-06-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cen.15097","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141528917","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Daniela Choukair, Janna Mittnacht, Dorothea Treiber, Georg F. Hoffmann, Corinna Grasemann, Angela Huebner, Reinhard Berner, Peter Burgard, Julia Szendroedi, Markus Bettendorf
Objective
Structured transition of adolescents and young adults with a chronic endocrine disease from paediatric to adult care is important. Until now, no data on time and resources required for the necessary components of the transition process and the associated costs are available.
Design, Patients and Measurements
In a prospective cohort study of 147 patients with chronic endocrinopathies, for the key elements of a structured transition pathway including (i) assessment of patients' disease-related knowledge and needs, (ii) required education and counselling sessions, (iii) compiling an epicrisis and a transfer appointment of the patient together with the current paediatric and the future adult endocrinologist resource consumption and costs were determined.
Results
One hundred and forty-three of 147 enroled patients (97.3%) completed the transition pathway and were transferred to adult care. The mean time from the decision to start the transition process to the final transfer consultation was 399 ± 159 days. Transfer consultations were performed in 143 patients, including 128 patients jointly with the future adult endocrinologist. Most consultations were performed by a multidisciplinary team consisting of a paediatric and adult endocrinologist, psychologist, nurse, and a social worker acting also as a case manager with a median of three team members and lasted 87.6 ± 23.7 min. The mean cumulative costs per patient of all key elements were 519 ± 206 Euros. In addition, costs for case management through the transition process were 104.8 ± 28.0 Euros.
Conclusions
Using chronic endocrine diseases as an example, it shows how to calculate the time and cost of a structured transition pathway from paediatric to adult care, which can serve as a starting point for sustainable funding for other chronic rare diseases.
{"title":"Resource use and costs of transitioning from paediatric to adult care for patients with chronic endocrine disease","authors":"Daniela Choukair, Janna Mittnacht, Dorothea Treiber, Georg F. Hoffmann, Corinna Grasemann, Angela Huebner, Reinhard Berner, Peter Burgard, Julia Szendroedi, Markus Bettendorf","doi":"10.1111/cen.15105","DOIUrl":"10.1111/cen.15105","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>Structured transition of adolescents and young adults with a chronic endocrine disease from paediatric to adult care is important. Until now, no data on time and resources required for the necessary components of the transition process and the associated costs are available.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Design, Patients and Measurements</h3>\u0000 \u0000 <p>In a prospective cohort study of 147 patients with chronic endocrinopathies, for the key elements of a structured transition pathway including (i) assessment of patients' disease-related knowledge and needs, (ii) required education and counselling sessions, (iii) compiling an epicrisis and a transfer appointment of the patient together with the current paediatric and the future adult endocrinologist resource consumption and costs were determined.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>One hundred and forty-three of 147 enroled patients (97.3%) completed the transition pathway and were transferred to adult care. The mean time from the decision to start the transition process to the final transfer consultation was 399 ± 159 days. Transfer consultations were performed in 143 patients, including 128 patients jointly with the future adult endocrinologist. Most consultations were performed by a multidisciplinary team consisting of a paediatric and adult endocrinologist, psychologist, nurse, and a social worker acting also as a case manager with a median of three team members and lasted 87.6 ± 23.7 min. The mean cumulative costs per patient of all key elements were 519 ± 206 Euros. In addition, costs for case management through the transition process were 104.8 ± 28.0 Euros.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Using chronic endocrine diseases as an example, it shows how to calculate the time and cost of a structured transition pathway from paediatric to adult care, which can serve as a starting point for sustainable funding for other chronic rare diseases.</p>\u0000 </section>\u0000 </div>","PeriodicalId":10346,"journal":{"name":"Clinical Endocrinology","volume":null,"pages":null},"PeriodicalIF":3.0,"publicationDate":"2024-06-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cen.15105","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141517714","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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