ESPE Abstracts

Objective: X-linked agammaglobulinemia (XLA) is a kind of primary immunodeficiency disease caused by mutations in the gene encoding Bruton agammaglobulinemia tyrosine kinase (BTK). This study, we identified a novel in frame deletion mutation in exon11, c.902 _ c.904 delAAG(p.e301 _ g302 delinsG) in BTK gene and evaluated the function of BTK.Methods: A five-year-old boy presented with recurrent respiratory tract infections. His height wa...

Background: 1q21.1 microdeletion syndrome is a genetic disorder characterized by a spectrum of complex clinical manifestations, including neurodevelopmental abnormalities, short stature, and cardiac anomalies. However, the phenotypic heterogeneity of this condition poses a diagnostic challenge. We report a unique case of a patient who presented solely with short stature, which was later determined not to be caused by a 1q21.1 microdeletion after comprehensive ...

Objectives: Premature ovarian insufficiency (POI) is mostly considered X chromosome abnormalities in child. Few of POI cases are associated with autosomal abnormalities. This study was to identify new genes involved POI in three girls.Methods: Three girls who came to the hospital because of no menstruation were investigated. They were 14, 15, and 14 years old. They did not find any breast tissue in their physical examination. Clinical data, sex hormones,...

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...