Testotoxicosis

General Information (adopted from Orphanet):

Synonyms, Signs: SEXUAL PRECOCITY, FAMILIAL, GONADOTROPIN-INDEPENDENT
TESTOTOXICOSIS, FAMILIAL LEYDIG CELL ADENOMA, SOMATIC, WITH MALE-LIMITED PRECOCIOUS PUBERTY, INCLUDED
Male limited precocious puberty
Familial gonadotropin-independent male-limited sexual precocity
Number of Symptoms 20
OrphanetNr: 3000
OMIM Id: 176410
ICD-10: E30.1
UMLs: C0342549
C1504412
MeSH: C536961
MedDRA: 10063654
10063656
Snomed: 237818003

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Precocious puberty
 -Rare endocrine disease
 -Rare gynecologic or obstetric disease

Symptom Information: Sort by abundance 

1
 (HPO:0000053) Macroorchidism Occasional [Orphanet] 18 / 7739
2
 (HPO:0000040) Long penis Frequent [Orphanet] 17 / 7739
3
 (HPO:0000789) Infertility Very frequent [Orphanet] 74 / 7739
4
 (HPO:0008669) Abnormal spermatogenesis Occasional [Orphanet] 11 / 7739
5
 (HPO:0008734) Decreased testicular size 105 / 7739
6
 (HPO:0000708) Behavioral abnormality Occasional [Orphanet] 212 / 7739
7
 (HPO:0000752) Hyperactivity Occasional [Orphanet] 140 / 7739
8
 (HPO:0008185) Precocious puberty in males 4 / 7739
9
 (HPO:0000826) Precocious puberty Very frequent [Orphanet] 42 / 7739
10
 (HPO:0005616) Accelerated skeletal maturation Very frequent [Orphanet] 46 / 7739
11
 (HPO:0000098) Tall stature Very frequent [Orphanet] 74 / 7739
12
 (HPO:0001061) Acne Frequent [Orphanet] 33 / 7739
13
 (HPO:0001595) Abnormality of the hair Frequent [Orphanet] 89 / 7739
14
 (OMIM) Extremely rapid virilization 1 / 7739
15
 (OMIM) Increased gonadotropin-independent gonadal testosterone secretion 1 / 7739
16
 (OMIM) Male-limited sexual precocity 1 / 7739
17
 (OMIM) Advanced spermatogenesis on testis biopsy 1 / 7739
18
 (OMIM) Low basal and gonadotropin-releasing hormone-induced secretion of luteinizing hormone (LH) 1 / 7739
19
 (OMIM) Novel plasma stimulator of testicular testosterone 1 / 7739
20
 (HPO:0001470) Sex-limited autosomal dominant 7 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Familial male precocious puberty is a gonadotropin-independent disorder that is inherited in an autosomal dominant, male-limited pattern. Affected males generally exhibit signs of puberty by age 4 years (Shenker et al., 1993).
Clinical Description OMIM Schedewie et al. (1981) and Rosenthal et al. (1983) described a syndrome of sexual precocity in boys, characterized by a sex-limited autosomal dominant inheritance pattern and extremely rapid virilization. In this syndrome, in contrast to 'true' precocious puberty, ...
Molecular genetics OMIM Shenker et al. (1993) noted that testosterone production and Leydig cell hyperplasia occur in the context of prepubertal levels of luteinizing hormone. Since the LH receptor is a member of the family of G protein-coupled receptors, they hypothesized ...