17α-Hydroxylase/17,20-Lyase Deficiency in 46,XY: Our Experience and Review of Literature

CONTEXT: There are more than 100 pathogenic variants in CYP17A1 that have been identified in patients with 17α-hydroxylase/17,20-lyase deficiency (17OHD). OBJECTIVE: We aimed to describe 46,XY patients with 17OHD from our center and review the literature. METHODS: We retrospectively analyzed genetic...

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Detalles Bibliográficos
Autores principales: Maheshwari, Madhur, Arya, Sneha, Lila, Anurag Ranjan, Sarathi, Vijaya, Barnabas, Rohit, Rai, Khushnandan, Bhandare, Vishwambhar Vishnu, Memon, Saba Samad, Karlekar, Manjiri Pramod, Patil, Virendra, Shah, Nalini S, Kunwar, Ambarish, Bandgar, Tushar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Clinical Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8845120/
https://www.ncbi.nlm.nih.gov/pubmed/35178494
http://dx.doi.org/10.1210/jendso/bvac011

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8845120/
https://www.ncbi.nlm.nih.gov/pubmed/35178494
http://dx.doi.org/10.1210/jendso/bvac011

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