Journal of Pediatric Endocrinology & Metabolism : JPEM

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: 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...

OBJECTIVES: To generate normative data and validate the recently developed, gender-neutral, External Genitalia Score (EGS) in Indian preterm and term neonates and children up to 2 years of age with normal and atypical genitalia. METHODS: This observational study included 1,040 neonates born between 28 and 42 weeks of gestation and 152 children between 1 and 24 months of age. In addition, 50 children with disorders of sex development (DSD) were also enrolled in the study...

OBJECTIVES: Body esteem (BE) and quality of life (QOL) of girls aged 9-11 years may change depending on their puberty. We aimed to examine The Pediatric Quality of Life Inventory 4.0 (PedsQL 4.0) and the Body Esteem for Adolescents and Adults Scale (BESAA) for children. METHODS: The groups were determined as those whose puberty signs had not yet started (Group 1), those having with breast development stage 3 and/or larger (Group 2), and those who had received gonadotropin-releasing hormone agonist (GnRHa) treatment for at least 6 months (Group 3)...

OBJECTIVES: We sought to determine if the early months of the coronavirus disease 2019 (COVID-19) pandemic influenced pediatric diabetic ketoacidosis (DKA) hospitalization characteristics. METHODS: This is a cross-sectional study of youth with laboratory-confirmed DKA admitted to a large tertiary children's hospital in the USA. Data were collected from admissions in March through July 2019 and March through July 2020, respectively. We evaluated the clinical characteristics of hospitalization, including demographic data and DKA severity...

OBJECTIVES: Clinical benefits of growth hormone (GH) in Prader-Willi syndrome (PWS) are proven and scoliosis is a known association of both PWS and GH therapy. The aims of this study were to assess GH prescribing practices and growth outcomes over time, the prevalence and predictors of scoliosis in GH-treated PWS children, and the near-final height of GH-treated PWS patients. DESIGN AND METHODS: This is a retrospective, descriptive study evaluating data from all clinic visits of patients aged 0-18 years with PWS, seen through the Children's Hospital at Westmead between March 1992 and May 2022 (n=75)...

OBJECTIVES: To report an unusual case of thyroid abscess associated with thyroid dysfunction in an adolescent girl who has a normal anatomic structure of the thyroid gland. CASE PRESENTATION: A 15-year-old adolescent girl presented with a history of fever, sore throat, and neck swelling for 10 days duration. Contrast-enhanced computed tomography neck showed findings suggestive of an abscess involving the left lobe of the thyroid gland. She had low TSH and elevated T3 and T4 levels...

OBJECTIVES: Ovarian hyperthecosis (OHT) is a rare cause of severe hyperandrogenism in the adolescent age group. We describe two case reports, and present an approach to management in this age group based on a review of the literature. CASE PRESENTATION: Patient A presented at age 13 years with a 2 year history of androphonia and hirsuitism. Her testosterone level was elevated at 8.3 nmol/L, and there was marked enlargement of her ovaries bilaterally. There were no focal adrenal or ovarian lesions identified on imaging...

OBJECTIVES: Lipoid congenital adrenal hyperplasia (LCAH) is a rare autosomal recessive disease caused by mutations in the steroidogenic acute regulatory protein ( STAR ) gene, expressed in the adrenal and gonadal tissues. In classical LCAH, individuals with 46, XY chromosomes present with a female appearance of the external genitalia due to insufficient androgen production. In the non-classical form, a milder phenotype is observed with male external genitalia. Here, we present a non-classical LCAH diagnosis with a newly identified c...

OBJECTIVES: To evaluate the association between perinatal and obstetric factors as potential triggers for the early onset of T1DM. METHODS: This was a retrospective cohort study enrolling 409 patients diagnosed with T1DM, in Bauru, São Paulo, Brazil, from 1981 to 2023. Data were retrieved from medical records, regarding sociodemographic parameters as age, sex, ethnicity, and socioeconomic status. Perinatal and obstetric factors as delivery type, gestational age, filiation order, length of exclusive breastfeeding, maternal age, maternal and fetal blood types, and occurrence of maternal gestational diabetes were also analyzed...

OBJECTIVES: Pseudohypoparathyroidism (PHP) comprises a cluster of heterogeneous diseases characterized by hypocalcemia and hyperphosphatemia due to parathyroid hormone (PTH) resistance. PHP type 1B (PHP1B) is caused by heterozygous maternal deletions within GNAS or STX16. STX16 exon 2-6 deletion is commonly observed in autosomal dominant (AD)-PHP1B, while sporadic PHP1B commonly results from methylation abnormalities of maternal differentially methylated regions and remains unclear at the molecular level...

OBJECTIVES: This study aims to investigate the clinical features of differentiated thyroid carcinoma (DTC) in children and adolescents under 18 years and assess the impact of surgery combined with thyroid hormone and radioactive iodine (RAI) on their prognosis. METHODS: A retrospective observational study was conducted, involving children/adolescents with DTC who underwent surgery at the Head and Neck Department of Tianjin Medical University Cancer Institute and Hospital from January 1998 to December 2018...