ESPE Abstracts

Background: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is reported inadequate growth and impairment of the final height (FH).Objective: We present the results of near FH in 55 patients with classic 21-OHD followed up for approximately 11.6 years(the longest 25.3 years)in a single institution, and the variables related to NFH.Method: Patients with classic 21-OHD followed up at our clinic, who had ...

Background: Nephrotic syndrome is the most common cause of kidney disease in children, but its pathogenesis remains unclear. Nephrotic syndrome in patients with congenital adrenal hyperplasia has not been reported.Case presentation: A 38-month-old female child was admitted with eyelid edema. She was the first child (birth weight, 3.0 kg, full term) of non-consanguineous parents of Chinese Han ethnicit. She had been diagnosed with congenital adrenal hyper...

Background: Congenital adrenal hyperplasia due to 17α-hydroxylase deficiency is a rare autosomal recessive disorder, characterized by sexual infantilism, amenorrhoea, hypertension and hypokalemia,which is caused by CYP17A1 gene mutations.Objective and hypotheses: To provide a descriptive analysis of 17α-hydroxylase deficiency in two female siblings with different karyotype of 46, XX and 46, XY.Method: The clinical feature...

Background: X-linked Adrenal Hypoplasia Congenita (AHC) is a very rare hereditary cause of pediatric primary adrenal insufficiency (PAI). Congenital adrenal hyperplasia (CAH) due to 21-hydrolase deficiency(21OHD) is most common hereditary cause of pediatric PAI with autodominal recessive inheritance.Objective: To present a Chinese boy with PAI with the pathogenic mutation of NROB1 and Double mutants in cis of CYP21A2 gen...

Background: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy (MDPL) syndrome is a genetic disorder which was first recognized in 2010. MDPL syndrome is comprised of mandibular hypoplasia, deafness, progeroid features, lipodystrophy, hypogonadism and metabolic disorders. It is caused by an autosomal dominant mutation in the polymerase delta 1 (POLD1) gene, with <30 genetically confirmed cases to date.Cas...

Background: Familial hCG syndrome is a rare and benign cause of elevated serum beta human chorionic gonadotropin (β- hCG), moreover, elevated β-hCG in cerebrospinal fluid(CSF) has never been reported in familial hCG syndrome.Object: To report the two Chinese families of familial hCG syndrome with elevated β-hCG concurrently in blood/CSF.Method: We described the clini...

Objective: To summarize the metabolic status in children with classic congenital adrenal hyperplasia(CAH) due to 21-hydroxylase deficiency (21OHD).Methods: Children with classic 21OHD from Pediatric Endocrinology Clinics at the First affiliated hospital of Sun Yat-Sen University from January 1990 to February 2023 were included in the study. The prevalence of overweight/obesity, dyslipidemia [high triglyceride (TG), high ...

Background and Objectives: In the patients with Turner syndrome (TS), the risk of hypertension is higher in childhood and adulthood. The aim of the study was to retrospectively analyze 24-hour ambulatory blood pressure monitoring (ABPM) in children and adolescents with TS and its related factors.Materials and Methods: A retrospective study was conducted involving TS patients admitted to our pediatric endocrine specialist...

Object: To raise the awareness of clinical manifestations about vasculitis-related moyamoya syndrome by summarizing the clinical characteristics of a girl with central precocious puberty, vasculitis-related moyamoya syndrome and reviewing the literature. Method: We carried on the review analysis to the patient with central precocious puberty, vasculitis-related moyamoya syndrome and reviewed the literature. Result: The bilateral breast development was the prim...

Objective: To summarize the diagnosis and treatment of a rare 46XY DSD cause: Denys-Drash syndrome.Methods: To summarize the clinical manifestations, laboratory tests, diagnosis and treatment of a rare 46XY DSD cause presenting with hemolytic uremic syndrome: Denys-Drash syndrome (WT1 mutation).Results: Female, 2 years and 4 months, were admitted to the hospital at 2018-11-7 becaus...