ESPE Abstracts

Background: In developing countries, due to the lack of medical resources, it is necessary to do the preliminary diagnosis of Bartter syndrome and Gitelman syndrome according to the existing clinical data rather than the genetic testing. Is clinical diagnosis consistent with the gene diagnosis?Objective and hypotheses: To summarise the children’s clinical features, furosemide/hydrochlorothiazide loading test and genotype of Bartter syndrome and Gite...

Background: Recently, progranulin (PGRN) was a novel adipokine which is a key adipokine insulin resistance in adipose tissue. While GH was closely related to glucose metabolism and insulin resistance.Objective and hypotheses: We suspected that there maybe some positive relationship between GH and PGRN. Our study was to detect expression and regulation of PGRN in mouse 3T3-L1 cells follow the treatment with GH.Method: The mRNA was m...

Background: Percutaneous administration of dihydrotestosterone (DHT) gel has been successful used in promoting phallic growth in children with micropenis. We investigated whether percutaneous administration of DHT gel is similarly effective in Chinese children with microphallus due to various etiologies.Objective and hypotheses: To study the pharmacokinetics and effect of percutaneous administration DHT gel in the Chinese microphallus patients.<p cla...

Background: Early menarche may be associated with diabetes, metabolic syndrome, cardiovascular disease and oligomenorrhoea in adults. While the state of metabolism and gonadal axis of early menarche girls and girls who treated with Gonadotropin-releasing hormone analogues (GnRHa) during puberty was not so clear.Objective and hypotheses: We assessed in a retrospective unicentre study the state of metabolism and gonadal axis of early menarche girls and gir...

Background: Oestrogen has positive effect to glucose and lipid metabolism. On the contrary, leptin has negative effect to metabolism. During GnRHa treatment, the secretion of oestrogen was suppressed and its effect will fade away.Objective and hypotheses: To observe the changes of body fat and metabolic parameters of central precocious puberty (CPP) or early and fast puberty (EFP) girls who treated with Gonadotropin-releasing hormone analogues (GnRHa).</...

Background: A patient with both Prader-Willi syndrome and mosaic Turner syndrome is extremely rare. We performed fMRI and euglycaemic-hyperinsulinaemic clamp test for her.Case presentation: A 17-yr-old girl was diagnosed as Prader-Willi syndrome by her clinical investigations including poor feeding in infancy, hyperphagia, developmental delay, mental disorders, behavior problems, thin upper lip, almond-shaped eyes, acromicria and genital hypoplasia. Mate...

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...

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 ...

Introduction: Chronic diseases such as type 1 diabetes mellitus (T1DM) may alter linear growth, but previous reports regarding growth in children with T1DM has been inconsistent. This study aims to investigate height and growth velocity of T1DM patients after diagnosis of diabetes and whether they are affected by various factors.Methods: This retrospective study, included 151 patients (male, 45.0%; mean age at diagnosis,...