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Analysis of genetic and clinical characteristics of androgen insensitivity syndrome: a cohort study including 12 families.
Yuan, Zheng; Fan, Lijun; Wang, Yi; Li, Lele; Ren, Xiaoya; Sui, Shengbin; Song, Yanning; Cheng, Ming; Cao, Bingyan; Gong, Chunxiu.
Afiliación
  • Yuan Z; Department of Endocrinology, Genetics, Metabolism, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, 56# Nan Lishi Rd, West District, Beijing 100045, China.
  • Fan L; Beijing Key Laboratory for Genetics of Birth Defects, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, 56# Nan Lishi Rd, West District, Beijing 100045, China.
  • Wang Y; MOE Key Laboratory of Major Diseases in Children, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, 56# Nan Lishi Rd, West District, Beijing 100045, China.
  • Li L; Department of Endocrinology, Genetics, Metabolism, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, 56# Nan Lishi Rd, West District, Beijing 100045, China.
  • Ren X; Beijing Key Laboratory for Genetics of Birth Defects, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, 56# Nan Lishi Rd, West District, Beijing 100045, China.
  • Sui S; MOE Key Laboratory of Major Diseases in Children, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, 56# Nan Lishi Rd, West District, Beijing 100045, China.
  • Song Y; Department of Endocrinology, Genetics, Metabolism, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, 56# Nan Lishi Rd, West District, Beijing 100045, China.
  • Cheng M; Beijing Key Laboratory for Genetics of Birth Defects, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, 56# Nan Lishi Rd, West District, Beijing 100045, China.
  • Cao B; MOE Key Laboratory of Major Diseases in Children, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, 56# Nan Lishi Rd, West District, Beijing 100045, China.
  • Gong C; Department of Endocrinology, Genetics, Metabolism, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, 56# Nan Lishi Rd, West District, Beijing 100045, China.
Eur J Endocrinol ; 191(1): 87-96, 2024 Jul 02.
Article en En | MEDLINE | ID: mdl-38938059
ABSTRACT
CONTEXT Androgen insensitivity syndrome (AIS) manifests itself as variable symptoms of under-virilization in patients with 46,XY disorders caused by androgen receptor (AR) gene variants. This large-sample study aimed to correlate the genotypes and phenotypes to the fertility of individuals.

METHODS:

This was a cohort study that analyzed the genetic and clinical characteristics of patients with AIS from a single center in China.

RESULTS:

The 117 patients were divided into 53 with complete AIS (CAIS) and 64 with partial AIS (PAIS). At their first visit, the median age was 1.83 years (0.92-4.17), and the external masculinization score was 3.0 (2.0-6.0). At the last follow-up, 92% (49/53) of patients with CAIS maintained their female gender, and 94% (60/64) of patients with PAIS were raised as males. No gender anxiety was observed in this study. Eighty-eight AR variants were identified, with 31 (35%) being unreported. Moreover, 24% (21/88) occurred more than once. The variants that appeared most frequently were located at amino acid 841, including p.R841H (n = 5) and p.R841C (n = 2). Variants p.N706S, p.R856H, and p.A871V were each observed 4 times. In terms of inheritance, 83% of patients with parental verification inherited variants from their mothers. We also observed that the variants from 1 case were inherited from his maternal grandfather who had hypospadias.

CONCLUSION:

Most children with PAIS were raised as males. The abundance of maternally inheritable variants and the presence of case of preserved fertility indicate the fertility potential in patients with AIS. Hence, we recommend a careful evaluation of gonadectomy when fertility preservation is being considered.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndrome de Resistencia Androgénica / Receptores Androgénicos Límite: Child / Child, preschool / Female / Humans / Infant / Male País/Región como asunto: Asia Idioma: En Revista: Eur J Endocrinol Asunto de la revista: ENDOCRINOLOGIA Año: 2024 Tipo del documento: Article País de afiliación: China Pais de publicación: Reino Unido
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndrome de Resistencia Androgénica / Receptores Androgénicos Límite: Child / Child, preschool / Female / Humans / Infant / Male País/Región como asunto: Asia Idioma: En Revista: Eur J Endocrinol Asunto de la revista: ENDOCRINOLOGIA Año: 2024 Tipo del documento: Article País de afiliación: China Pais de publicación: Reino Unido