Leydig cell hypoplasia due to complete LH resistance

General Information (adopted from Orphanet):

Synonyms, Signs: LUTEINIZING HORMONE RESISTANCE, FEMALE, INCLUDED
LEYDIG CELL HYPOPLASIA, PARTIAL, INCLUDED
LEYDIG CELL HYPOPLASIA WITH MALE PSEUDOHERMAPHRODITISM
LEYDIG CELL AGENESIS LEYDIG CELL HYPOPLASIA, TYPE II, INCLUDED
LEYDIG CELL HYPOPLASIA, COMPLETE
HYPERGONADOTROPIC HYPOGONADISM, MALE, DUE TO LHCGR DEFECT, INCLUDED
46,XY disorder of sex development due to complete luteinizing hormone resistance
Leydig cel hypoplasia due to complete luteinizing hormone resistance
46,XY DSD due to complete luteinizing hormone receptor inactivation
46,XY disorder of sex development due to complete LH resistance
46,XY DSD due to complete LH resistance
Leydig cel hypoplasia due to complete luteinizing hormone receptor inactivation
46,XY disorder of sex development due to complete LH receptor inactivation
46,XY disorder of sex development due to complete luteinizing hormone receptor inactivation
46,XY DSD due to complete luteinizing hormone resistance
46,XY DSD due to complete LH receptor inactivation
Leydig cel hypoplasia due to complete LH receptor inactivation
Number of Symptoms 2
OrphanetNr: 96265
OMIM Id: 238320
ICD-10: Q56.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Leydig cell hypoplasia
 -Rare developmental defect during embryogenesis
 -Rare endocrine disease
 -Rare genetic disease
 -Rare urogenital disease

Symptom Information: Sort by abundance 

1
(HPO:0000815) Hypergonadotropic hypogonadism 48 / 7739
2
(HPO:0000837) Increased circulating gonadotropin level 12 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Leydig cell hypoplasia is an autosomal recessive disorder in which loss of function of the LHCGR gene in the male prevents normal sexual development. Two types of LCH have been defined (Toledo, 1992). Type I, a severe form ...
Clinical Description OMIM - Leydig Cell Hypoplasia

Perez-Palacios et al. (1975, 1981) reported 3 46,XY sibs, 2 postpubertal and 1 prepubertal, with infantile female external genitalia and lack of breast development and sexual hair. Persistently elevated serum levels of ...

Molecular genetics OMIM Wu and Chan (1999) noted that missense, nonsense, insertion, and deletion mutations in the LHR gene have been found to reduce or abolish the signal transduction activity of the LHR, causing testicular and ovarian resistance to LH. ...