Leydig cell hypoplasia type 1 diagnosed in early childhood with inactivating mutation in LHCGR gene

Leydig cell aplasia/hypoplasia is an autosomal recessive condition. In its complete form, these patients are 46XY but are cryptorchid and phenotypically female. Most cases reported in literature presented with in adolescence with pubertal delay. We reported a case with a predefined mutation in the L...

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Detalles Bibliográficos
Autores principales: Çömlek, Fatma Özgüç, Yıldız, Raif, Seyrek, Fatma, Tütüncüler, Filiz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8081017/
https://www.ncbi.nlm.nih.gov/pubmed/33948188
http://dx.doi.org/10.1093/omcr/omab015

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8081017/
https://www.ncbi.nlm.nih.gov/pubmed/33948188
http://dx.doi.org/10.1093/omcr/omab015

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