ESPE2023 Poster Category 2 Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology (27 abstracts)
Clinical outcomes and genotype-phenotype correlations in patients with complete and partial androgen insensitivity syndromes
Ji-Hee Yoon 1 , Nae-Yun Lee 1 , Ja Hye Kim 1 , Soojin Hwang 1 , Gu-Hwan Kim 1 , Han-Wook Yoo 2 & Jin-Ho Choi 1
1Department of Pediatrics, Medical genetics Center, Asan medical Center Children, University of Ulsan College Medicine, Seoul, Korea, Republic of. 2Department of Pediatrics, CHA Bundang Medical Center, CHA University, Gyeonggi-Do, Korea, Republic of
Purpose: Androgen insensitivity syndrome (AIS) is a rare X-linked recessive disorder caused by unresponsiveness to androgen because of mutations in the AR gene. Here, we investigated the clinical outcomes and molecular spectrum of AR variants in patients with AIS attending a single academic center.
Methods: This study included 19 patients with AIS who were confirmed by molecular analysis of AR. Clinical features and endocrinological findings were retrospectively collected, including presenting features, external genitalia, sex of rearing, timing of gonadectomy, pubertal outcomes, and sex hormone levels. Molecular analysis of AR was performed using Sanger, targeted gene panel, or whole exome sequencing.
Results: Among all 19 patients, 14 (74%) were classified as having complete AIS (CAIS), whereas five (26%) had partial AIS (PAIS). All patients with CAIS and three patients with PAIS were reared as female. One patient with CAIS manifested mixed germ cell tumor at the age of 30 years. Molecular analysis of AR identified 19 different sequence variants; 12 (63%) were previously reported, and the remaining seven (37%) were novel. Missense mutations were the most common (12/19, 63%), followed by small deletions, nonsense mutations, an insertion, and a splice site mutation.
Conclusions: Here, we describe the clinical outcomes and molecular characteristics of 19 Korean patients with AIS. Patients with PAIS manifested various degrees of masculinization of the external genitalia. Nonsense and frameshift mutations were frequent in patients with CAIS, whereas patients with PAIS harbored exclusively missense mutations.
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