Journal of Pediatric Endocrinology & Metabolism : JPEM

OBJECTIVES: Congenital hypogonadotropic hypogonadism (CHH) is a rare condition caused by a defect in the production, secretion or action of gonadotropin-releasing hormone. The absence of puberty and varying degrees of gonadotropic deficiency are common symptoms of this disorder. Heterogeneity exists in the clinical presentation of the different clinical subtypes and multiple genes have been implicated in CHH. A number of genetic defects have been identified as causes normosmic CHH, including mutations of GnRHR , GNRH1 , KISS1R , KISS1 , TACR3 and TAC3 ...

OBJECTIVES: The study aimed to evaluate the correlation between self-reported pubertal developmental scale (PDS) and physically assessed Tanner staging by an experienced pediatrician among girls. METHODS: In a school population-based study in Zhongshan, China, we recruited 1,722 girls in grades 1-3 by a multistage stratified cluster random sampling method. Participants completed self-reported PDS questionnaire prior to physical examination. Breast development was evaluated by a female pediatrician combined with ultrasound examination for overweight/obese girls; pubic hair development was evaluated...

OBJECTIVES: To present the clinical journey and management of a 15-year-old female with SHORT syndrome, highlighting the diagnostic challenges and the novel genetic mutation identified. CASE PRESENTATION: A 15-year-old Filipino female was initially seen in a dermatology clinic at 9 years old for axillary skin darkening, indicative of acanthosis nigricans. Early evaluations revealed elevated blood glucose levels, resulting in a pediatric diabetes diagnosis without the usual hyperglycemic symptoms...

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Refractory hypothyroidism (RF) defined as raised serum levels of thyroid stimulating hormone (TSH) above upper limit of the reference range with or without the persistence of hypothyroid symptoms following a 6-week interval after the dosage was last increased to upper limits of dose per age. The most common cause of RH is inadequate compliance. In addition, diet, concomitant medication interactions, and gastrointestinal diseases can all result in l-thyroxine (LT4) malabsorption, which can cause RH. Moreover, weight gain, switching brands of LT4, poor storage of LT4, chronic liver disorders, cystic fibrosis, nephrotic syndrome, consumptive hypothyroidism, Addison's disease are significant contributors to RF in children...

OBJECTIVES: Human recombinant enzyme replacement therapy, given to compensate for genetic enzyme deficiency in lysosomal storage diseases, delays the progression of the disease and improves the quality of life. However, enzyme replacement therapy may cause hypersensitivity reactions. Within the scope of this research, we aimed to elucidate the frequency and clinical features of hypersensitivity reactions against enzyme replacement therapy in children with lysosomal storage diseases and clarify the management of these reactions...

OBJECTIVES: To assess the role of Cardiotrophin-1 (CT-1) and echocardiography in early detection of subclinical Diabetic Cardiomyopathy (DCM) in children with type 1 Diabetes Mellitus (T1D). METHODS: This case-control study included two groups of children and adolescents aged between 7 and 18. Group (1) included forty patients with T1D (duration > 5 years) regularly followed at the children's hospital of Cairo University, and Group (2) included forty age and sex-matched healthy subjects as a control group...

OBJECTIVES: We introduced selpercatinib prior to radioactive iodine therapy prior to radioactive iodine therapy (RAI) for pediatric papillary thyroid cancer (PTC) to enhance the tumorical effects of RAI. CASE PRESENTATION: PTC has an excellent prognosis but is commonly associated with local and distant metastases. Successful complete response to the current standard of care, thyroidectomy with lymph node resection and RAI, is achieved in only a small minority of cases with metastases...

OBJECTIVES: The aim of the current study was to assess the natural course of partial remission (PR) phase of type 1 diabetes (T1D) and to highlight the putative association between vitamin D receptor (VDR) (Fok1) gene polymorphism and PR phase. METHODS: Ninety participants with newly diagnosed T1D were followed up for a total of 12 months. The VDR (Fok1) rs2228570 gene polymorphism was genotyped using allelic discrimination (AD) assay. RESULTS: Fifty-four patients (60 %) reached PR with an average duration of 5...

OBJECTIVES: Hyperinsulinemic hypoglycaemia (HH) presents significant management challenges, especially in cases refractory to standard therapies. This case series aims to report the efficacy and safety of sirolimus, an mTOR inhibitor, as an adjunctive therapy in persistent HH, noting that current clinical guidelines caution its use outside of research. CASE PRESENTATION: We report a case series from two paediatric endocrinology centres across Australia, describing use of sirolimus in four infants with persistent HH refractory to conventional treatments or post near-total pancreatectomy...

OBJECTIVES: The study endeavored to evaluate the prolonged efficacy and safety of PEGylated rhGH (PEG-rhGH) administration in Chinese children diagnosed with growth hormone deficiency (GHD) over a 5-year period. METHODS: A retrospective analysis was conducted on children with GHD, who received a 0.2 mg/kg/week dose of PEG-rhGH between 2016 and 2023 in our department. RESULTS: The height standard deviation score (Ht SDS) exhibited a marked elevation post-PEG-rhGH administration (p<0...

OBJECTIVES: Subclinical hypothyroidism (SH) is defined by normal free triiodothyronine (fT3) and free thyroxine (fT4) levels, elevated thyroid-stimulating hormone levels, and the absence of overt clinical signs of hypothyroidism. The natural course of SH is influenced by the underlying etiology. The purpose of this study was to evaluate the etiologic causes of SH. METHODS: A total of 135 patients aged 1-18 years, diagnosed with SH by at least two analytical measurements, were included in the study...

OBJECTIVES: To study the urinary neutrophil gelatinase-associated lipocalin (NGAL) and beta-2-microglobulin (β2M) levels as markers of tubular damage in children with type 1 diabetes (T1DM). METHODS: Forty T1DM children and 40 age-matched controls were enrolled. Subjects with coexisting kidney disorder, intake of oral glucose lowering drugs and syndromic diabetes mellitus were excluded. Fasting plasma glucose, glycated hemoglobin (HbA1c ), kidney function, urinary albumin-creatinine ratio (UACR), NGAL and β2M were measured and compared in cases and controls...

OBJECTIVES: We are reporting a rare case series of 2 siblings and their mother with diabetes having a CFAP126 gene mutation. CASE PRESENTATION: Two female siblings, presented with incidental hyperglycemia at the ages of 16 and 13. They had a strong family history of diabetes on the maternal side. The systemic examination was unremarkable. Sibling 1 had HbA1C of 12.3 % with insulin and C-peptide levels of 6.6 IU/L and 1.8 ng/mL, respectively...

OBJECTIVES: Gonadotropin-releasing hormone (GnRH) test is the gold standard test to evaluate the hypothalamus-pituitary-gonadal (HPG) axis for the diagnosis of central precocious puberty (CPP). However, the diagnosis of cases with clinical features of CPP whilst have borderline peak LH remain challenges. We aimed to evaluate diagnostic performance of the average of LH levels measured during GnRH stimulation test. METHODS: Cases with diagnosis of CPP and premature thelarche (PT) who had a GnRH stimulation test results were retrospectively reviewed...

OBJECTIVES: Carbamoyl phosphate synthetase 1 (CPS-1) deficiency is a rare urea cycle disorder with an estimated prevalence of one in 150,000-200,000 live births. Patients often present with hyperammonemia shortly after protein feeding in the early days of life, and early-onset type is associated with high mortality rate. CASE PRESENTATION: We present here a case of a newborn male with a history of two deceased siblings whose ammonium level exceeded 200 μmol/L on the first day after birth, and who was started on dextrose infusion and ammonia-scavenging therapy after oral feeding was discontinued...

OBJECTIVES: Mild breast swelling is frequently observed in newborns during the first postnatal week. Breast enlargement is also observed in a minor proportion of infants beyond the first postnatal week, leading to discussions how to deal with it. Our objective was to review a case series of infants with prolonged breast swelling. CASE PRESENTATION: We examined five infants with pronounced breast enlargement beyond the first postnatal week and measured human chorionic gonadotropin (HCG), estradiol (E2), follicle-stimulating hormone (FSH), luteinizing hormone (LH), prolactin (PRL), and progesterone (P4) in blood samples and analyzed breast volume by sonographic volume determination in all infants initially and across time...

OBJECTIVES: This study aimed to analyze the height growth pattern and the incidence of significant growth deceleration in girls with CPP and EFP on GnRHa treatment, and thereby identify relevant predictors of growth deceleration. METHODS: The data of 99 girls diagnosed with CPP and 47 girls with EFP were included in this retrospective analysis. The incidence of growth deceleration was calculated in both the first and second years. Multivariate logistic regression analysis was used to identify predictors indicative of growth deceleration...

OBJECTIVES: Lymphedema (LD) in Turner syndrome (TS) is a commonly reported comorbidity, though its associations with karyotype and other comorbidities are poorly understood. Characteristics of patients with TS and LD, including correlation with phenotype and karyotype, are described. METHODS: Medical records of patients with TS seen in two pediatric institutions from 2002 to 2020 were retrospectively reviewed. Demographic data (age, presentation onset, clinical features, genetics, LD presence, investigations, treatments) were collected...

OBJECTIVES: Glycogen storage disease type V is caused by the mutations in muscle glycogen phosphorylase gene. This is the first report which DL-3-hydroxybutyric acid was used in combination with modified Atkins diet for the treatment of a patient with glycogen storage disease type V and quadriceps femoris shear wave elastography was performed to evaluate the treatment efficacy. CASE PRESENTATION: A 13-year-old girl was referred with fatigue and muscle cramps with exercise and there were no pathological findings in physical examination...