ESPE Abstracts

Objective: To investigate the clinical and molecular characteristics of a girl with 17α hydroxylase/17,20-lyase deficiency, of which, onset was as rhabdomyolysis and hypokalemia. And then we identified the functional consequences of two novel CYP17A1 mutations.Materials and Methods: A 11 years old girl, 46,XX karyotypes, presented with rhabdomyolysis, hypokalemia and hypertension. She had elevated levels of plasma adrenocorticotropic hormone, serum ...

Objective Summarizing and analysing the clinical characteristics of 193 patients with McCune-Albright syndrome (MAS) in China to improve the understanding of MAS for early detection, diagnosis and management. Methods All MAS-themed case-report or case-series studies published by the Chinese between January 1990 and November 2022 were retrieved from the Wanfang Full Text, CNKI, China Science and Technology Journal, PubMed and Embase databases, and clinical data were collected. ...

Background: 46, XY female disorders of sex development (46, XY female DSD) are congenital conditions caused by abnormal gonadal development or in androgen synthesis or action. Genes play an important role in DSD, but mechanisms are not clear. This study identified a Chinese family with the 46, XY female DSD caused by the CUL4B gene.Method: s: The proband medical history and pedigree were investigated. Variants analysis w...