Cargando…
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...
| Autores principales: | , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Oxford University Press
2021
|
| Materias: | |
| 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 |