x

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.

Attention

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

Leydig cell hypoplasia

Disease definition

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.

ORPHA:755

Classification level: Disorder
  • Synonym(s):
    • 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
  • Prevalence: -
  • Inheritance: -
  • Age of onset: Neonatal
  • ICD-10: Q56.1
  • OMIM: 238320
  • UMLS: C0860158
  • MeSH: -
  • GARD: 3244
  • MedDRA: 10024406
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.