Leydig cell hypoplasia
Synonyms: 46,XY DSD due to LH resistance or LHB deficiency | 46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency | 46,XY disorder of sex development due to LH resistance or LHB deficiency | 46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency
A rare 46,XY disorder of sex development due to impaired androgen production characterized by impaired normal male sexual development. The severity of the disorder varies and can manifest in its severe form with complete 46,XY male pseudohermaphroditism including low testosterone and high luteinizing hormone levels absent development of secondary male sex characteristics and lack of breast development. Patients with the milder form can have a wider range of phenotypes ranging from micropenis to severe hypospadias.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version February 2024
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Leydig cell hypoplasia?
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