ESPE Abstracts

Introduction: Genetic alterations within the cAMP/PKA pathway, including the genes GNAS, PDE11A, PDE8, PRKAR1A/B, and PRKACA, result in a spectrum of adrenocortical disorders. To date, somatic PRKACA variants and germline PRKACA copy number gain have been associated with the development of cortisol-secreting adrenocortical adenomas and bilateral adrenal hyperplasia, respectively. While variants within the PRKAR1A ge...

Background: MAS is a rare disorder, this syndrome is classically characterized by a triad of physical signs: cafe-au-lait skin pigmentation(SP), fibrous bone dysplasia(FD), peripheral precocious puberty(PPP). In children, the most frequent initial presentation of MAS is PPP. MAS is caused by postzygotic activating mutations at the R201 codon of the GNAS gene, leading to a state of somatic mosaicium. In MAS patients, the frequency of mutations is expected to be...

Central precocious puberty (CPP) is the endocrine disorder triggering by many factors those can activate the hypothalamic-pituitary-gonadal axis early which controlled GnRH secretion. However, the mechanism of CPP has not been elucidated. The study of patients with familial CPP helped understanding the complex physiological processes. Recently, loss-of-function mutations in human Makorin ring finger protein 3 (MKRN3) were found to contribute to over 30% of cases of familial CP...

We present two cases of a 13-year-old boy and a 12-year-old girl who were initially diagnosed as central diabetes insipidus (CDI). The Magnetic resonance imaging (MRI) showed pituitary stalk thickening with prominent homogeneous contrast enhancement in T1W and the loss of high signal in the posterior pituitary. In addition to CDI, the two children have a common clinical manifestation of growth retardation, with the laboratory tests suggesting complete growth hormone deficiency...

Objective: To summarize the clinical features and genetic characteristics of a patient with multiple endocrine neoplasia type 2B (MEN2B) and to review the literatures.Methods: We summarized clinical features, gene sequencing result, treatment and prognosis of a child suffered with MEN2B who was admitted to the Department of Pediatrics, Ruijin Hospital, Shanghai Jiaotong University School of Medicine in February 2016. And...

Background: Accumulated evidence indicates that the GH-IGF-1 pathway might be one of the crucial mechanisms of ISS. Insulin-like growth factor-1 receptor (IGF-1R) is the effector molecule that regulates the cascade reaction of hormone receptors in the GH–IGF-1 axis.Objective and hypotheses: To investigate the role of IGF-1R gene polymorphisms with regard to susceptibility to Idiopathic short stature risk in the Chinese population of Jiangxi area.</p...

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...

Objective: To summarize the clinical characteristics, genetics and follow-up data of five children with thyroid hormone resistance syndrome (RTH) and review the related literatures.Methods: The clinical data of the five children diagnosed with RTH in our hospital from 2018 to 2020 were retrospectively analyzed. Next-generation sequencing of the candidate genes related to thyroid diseases was performed using the blood col...

Background: Defects of the insulin receptor gene (INSR) can cause genetic syndromes associated with a wide diverse range of congenital insulin resistance from milder insulin-resistant diabetes mellitus (Type A insulin resistance syndrome, TAIRS) to leprechaunism (Donahue syndrome). Clinical features in TAIRS vary due to the severity of damage in INSR, precise diagnosis is challenging.Materials and Methods</stron...