ESPE Abstracts

Background: Hypoparathyroidism may manifest either as an isolated disorder or as a component of a more complex syndrome. Molecular genetic studies indicate that mutations in PTH, CASR, GCM2 and GNA11 are causes of isolated hypoparathyroidism (IH) and mutations in GATA3, TBCE, FAM111A, AIRE and TBX1 are associated with different complex syndromes with hypoparathyroidism.Objec...

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: The hypothalamus-pituitary-gonad (HPG) axis is crutial to the development and function of reproductive system. Gonadotropin-releasing hormone (GnRH) has been the standard test for the assessment of activation of HPG axis. Because GnRH is no longer available, GnRH analogues (GnRHa) are now used. In previous studies, GnRHa stimulation tests have been the mainstay for establishing the diagnosis of precocious puberty in female and distinguishing constitutional delay of...

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: 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: minipuberty (MP) consists in a postnatal activation of hypothalamic-pituitary-gonadal (HPG) axis, which occurs physiologically in both sexes during the first months of life. FSH and LH peak between 1 and 3 months, stimulating sex hormones secretion. In preterm infants, MP might lead to a stronger and more protracted hormonal stimulation, even if specific literature data are limited and not univocal. Immaturity of the hypothalamic feedback has been ...

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...