Journal of Clinical Research in Pediatric Endocrinology最新文献

Objective: Delayed puberty is thought to be common in boys with Duchenne muscular dystrophy (DMD) treated with long term oral glucocorticoid. The aim of this study was to report the frequency of delayed puberty in DMD from examination by a paediatric endocrinologist alongside detailed endocrine investigations.

Methods: All boys with DMD aged at least 14 years in January 2022 known to the paediatric neuromuscular service (2016-2022) were included. Delayed puberty was defined based on testicular volume and genital staging in comparison to a published puberty nomogram.

Results: Twenty-four out of 37 boys (65%) had evidence of delayed puberty and 23/24 (96%) were on glucocorticoid therapy, all of whom were on daily glucocorticoid. However, 7/13 (54%) with normal timing of puberty were on glucocorticoid; 2/7 (29%) were on the intermittent regimen. Of those who were on daily glucocorticoid therapy at the time of assessment of puberty, 23/28 (82%) had evidence of delayed puberty. In boys with delayed puberty, endocrine investigations showed low luteinizing hormone with undetectable testosterone levels, a pre-pubertal response with lutenizing hormone releasing hormone test and sub-optimal testosterone levels with prolonged human chorionic gonadotropin stimulation.

Conclusion: The frequency of delayed puberty in boys with DMD was 65%. Eighty-two percent of adolescent boys with DMD on daily glucocorticoid had evidence of delayed puberty. Biochemical investigations point to functional central hypogonadism in these adolescents. Our data supports the routine monitoring of puberty in boys with DMD.

Insulin-like growth factor-1 (IGF-1) is the main driver of growth during prenatal life and acts through IGF-1 receptor (IGF1R). Patients with IGF1R defects exhibit variable phenotypic features. A 10.9-year-old boy presented with severe short stature, microcephaly, minor dysmorphic features and mental retardation. Genetic analysis for IGF1R revealed heterozygous deletion of the complete IGF1R. At the age of 12.3 years, daily subcutaneous recombinant human growth hormone (rhGH) was started and continued for a total of 5.7 years in two courses with improvement of height velocity as well as final height. Puberty was delayed and eventually he did not achieve full puberty, suggesting partial hypogonadotropic hypogonadism. Hypothyroidism initially developed during rhGH therapy. However, low T4 levels persisted after cessation of rhGH therapy and thus central hypothyroidism is a likely diagnosis. rhGH has partial effect for induction of growth in cases with IGF1R defects. However, long-term treatment with an early initiation may have more beneficial effects. In addition, patients with IGF1R defects should be followed for delayed puberty-hypogonadism, and hypothyroidism.

Reset osmostat (RO) is classified as type C among the four subtypes of the syndrome of inappropriate secretion of antidiuretic hormone based on antidiuretic hormone (ADH) secretion. It is characterized by a lower plasma osmolality threshold for ADH excretion when plasma sodium concentration is reduced. We report the case of a boy with RO and a giant arachnoid cyst (AC). The patient had been suspected of having AC since the fetal period, and a giant AC in the prepontine cistern was confirmed by brain magnetic resonance imaging seven days after birth. During the neonatal period, there were no abnormalities in the general condition or blood tests, and he was discharged from neonatal intensive care at 27 days after birth. He was born with a -2 standard deviation score birth length and mild mental retardation. When he was six years old, he was diagnosed with infectious impetigo and had hyponatremia of 121 mmol/L. Investigations revealed normal adrenal and thyroid functions, plasma hypo-osmolality, high urinary sodium, and high urinary osmolality. The 5% hypertonic saline and water load tests confirmed that ADH was secreted under low sodium and osmolality conditions, and the ability to concentrate urine and excrete a standard water load; therefore, RO was diagnosed. In addition, an anterior pituitary hormone secretion stimulation test was performed, which confirmed growth hormone secretion deficiency and gonadotropin hyperreactivity. Hyponatremia was untreated, but fluid restriction and salt loading were started at 12 years old because of the risk of growth obstacles. The diagnosis of RO is important from the viewpoint of clinical hyponatremia treatment options.

Delayed puberty is defined as the lack of development of secondary sex characteristics in childhood. Based on a review of the literature, delayed puberty can be divided into three main categories: (i) hypergonadotropic hypogonadism (congenital and acquired); (ii) permanent hypogonadotropic hypogonadism (congenital and acquired); and (iii) transient hypogonadotropic hypogonadism [constitutional delay of growth and puberty (CDGP) and functional hypogonadotropic hypogonadism]. CDGP is the most common cause of hypogonadism in both males and females, accounting for 60% and 30% respectively. Testosterone is the primary treatment for male hypogonadism, while estrogen and progesterone are used for female hypogonadism. However, in recent years, physiological induction therapy protocols such as human chorionic gonadotropin (hCG) monotherapy, hCG + follicle-stimulating hormone combined therapy, and gonadotropin-releasing hormone infusion have been recommended for the treatment of hypogonadotropic hypogonadism to increase long-term fertility success. There is no clear consensus on treatment protocols for physiological induction treatment and its effect on fertility. This review will discuss the clinical approach to hypogonadism, as well as traditional and physiological induction protocols.

Swyer syndrome is a rare congenital condition that serves as a risk factor for developing germ cell tumors. The condition belongs to the group of 46, XY disorders of sexual development, is characterized by complete gonadal dysgenesis (CGD) and is mostly manifested as delayed puberty and primary amenorrhea during adolescence. Individuals with Swyer syndrome are known to be phenotypically female with normal internal and external female genitalia at birth. 46, XY GD involves a high risk of gonadoblastoma development with malignant potential such that the onset is greatest at or after the event of puberty. This report of a 12-year-old phenotypic female with 46, XY GD, who developed an advanced metastatic seminoma, highlights the rarity of the development of a seminoma in the context of 46, XY CGD.

Objective: The frequency of obesity and poor sleep quality among adolescents is increasing and causes many chronic problems. The objective was to investigate the correlation between body mass index (BMI), sleep quality, sleep duration and social jet lag (SJL) among adolescents.

Methods: This study was cross-sectional. A cohort of 416 adolescents, ranging in age from 12 to 18 years participated in the study. Adolescents were divided into three groups according to BMI standard deviation score (SDS): adolescents with normal weight, adolescents with overweight and adolescents with obesity. The Pittsburgh Sleep Quality Index (PSQI) questionnaire was used to determine the sleep quality of the adolescents. The calculation of SJL and sleep-corrected SJL was performed.

Results: The mean age of the adolescents was 15.0±2.9 years. There were 222 males (53.4%). SJL and PSQI scores were significantly higher in the adolescents with obesity compared to the adolescents with normal weight and overweight (p<0.001). An analysis of the relationship between the PSQI and BMI SDS revealed a significant positive correlation (r=0.667; p<0.001).

Conclusion: Adolescents with obesity have poorer sleep quality and a longer duration of SJL compared to adolescents with normal-weight. Moreover, increased SJL was linked to an increase in BMI. Maintaining good sleep quality and reducing SJL may help reduce the risk of obesity.

Neonatal diabetes mellitus (NDM) is a disorder characterized by persistent, severe hyperglycemia presenting during the first six months of life. These disorders are rare and the incidence is approximately 1 in 90,000 live births. The aim was to describe the clinical presentation, molecular genetics and outcome of patients with NDM from a single paediatric endocrine center from a low-middle income country, Sri Lanka. A retrospective study was conducted on patients diagnosed with NDM. Medical records were reviewed for demographic data and data on clinical, biochemical and genetic analysis. The majority (96%) who underwent mutation analysis had pathogenic genetic mutations on Sanger sequencing. Permanent NDM (PNDM) was diagnosed in 19 patients with three having a syndromic diagnosis. The most common mutation was in KCNJ11. The majority of patients with PNDM (63%) presented with severe diabetic ketoacidosis. All patients with Transient NDM remitted by six months of age. Nearly half (47%) with PNDM were switched to sulfonylurea therapy with good glycemic control (glycosylated haemoglobin A1c ranged 6-7.5%). Data from the Sri Lankan cohort is comparable with other populations. The majority of cases are due to KCNJ11 mutations resulting in PNDM.

Type 1 Diabetes Mellitus (T1DM) is a chronic condition requiring lifelong management that affects a large number of children and adolescents globally. While diabetes care has improved over the years, low-middle income countries (LMIC) like Indonesia still struggle to achieve optimal diabetes care due to limited access to healthcare professionals, insulin, diabetes technologies, and self-monitoring blood glucose (SMBG) devices. Data from the Indonesian Pediatric Society registry has reflected a stark increase in the number of children with T1DM, with the current prevalence significantly concentrated on Java Island and a noticeable underreporting in rural regions. Another major challenge is the uneven distribution of pediatric endocrinologists, resulting in a low specialist-to-patient ratio. This imbalance, coupled with inadequate access to comprehensive diabetes care, complicates effective T1DM management. While the national insurance covers a portion of costs associated with T1DM care, vital aspects of T1DM management including SMBG devices are still not covered, resulting in significant financial burden to families. Access to diabetes technologies that improve glycemic control and quality of life of patients is also still largely limited. This paper evaluates the current state and future needs for insulin and SMBG in Indonesia, emphasizing the necessity of strategic interventions to improve access and quality of diabetes care.

Objective: This study aims to evaluate the off-label use of the MiniMed™ 780G system in children under seven years old.

Methods: Children under seven years with type 1 diabetes (T1D) using MiniMed™ 780G were retrospectively compared with children of similar age and gender using MiniMed™ 640G and multiple-dose insulin (MDI) therapy with continuous glucose monitoring systems (CGMs). CGM metrics, total daily insulin dose (TDI), and HbA1c levels were evaluated retrospectively at baseline and at the 3rd, 6th, and 12th months.

Results: At the initiation of MiniMed™ 780G therapy, the mean age was 5,25±1,22 years (range: 2,8–6,8 years). Glucose management indicator (GMI) and HbA1c remained lower in the MiniMed™ 780G group at the 3rd, 6th, and 12th months compared to baseline (p=0,009 and p<0,001, respectively), Time Above Range (TAR) was significantly lower at the 3rd, 6th, and 12th months (p=0,018, 0,017, 0,04, respectively), and Time in Range (TIR) was higher at the 3rd and 12th months (p=0,026 and 0,019, respectively) compared with the other groups. No instances of ketoacidosis or severe hypoglycemic events were observed in any of the children during the follow-up period.

Conclusions: The absence of significantly higher levels of hypoglycemia compared to other groups at any time point, along with a significant decrease in TAR across all time points, a significant increase in TIR at the 3rd and 12th months, and a significant decrease in HbA1c and CV, indicates that the MiniMed™ 780G system is both safe and effective for children under seven years old.