Familial male-limited precocious puberty

Medical condition

Familial male-limited precocious puberty
Other names	Familial sexual precocity

Male-limited precocious puberty has an autosomal dominant pattern of inheritance. However, only males are affected; females with the mutant gene are not affected.

Familial male-limited precocious puberty, often abbreviated as FMPP, also known as familial sexual precocity or gonadotropin-independent testotoxicosis, is a form of gonadotropin-independent precocious puberty in which boys experience early onset and progression of puberty. Signs of puberty can develop as early as an age of 1 year.

The spinal length in boys may be short due to a rapid advance in epiphyseal maturation. It is an autosomal dominant condition with a mutation of the luteinizing hormone (LH) receptor. As FMPP is a gonadotropin-independent form of precocious puberty, gonadotropin-releasing hormone agonists (GnRH agonists) are ineffective. Treatment is with drugs that suppress or block the effects of gonadal steroidogenesis, such as cyproterone acetate, ketoconazole, spironolactone, and testolactone. Alternatively, the combination of the androgen receptor antagonist bicalutamide and the aromatase inhibitor anastrozole may be used.

Robert King Stone, personal physician to American president Abraham Lincoln, described the first case of FMPP in 1852.

References

^ Online Mendelian Inheritance in Man (OMIM): 176410
Traggiai C, Stanhope R (2003). "Disorders of pubertal development". Best Pract Res Clin Obstet Gynaecol. 17 (1): 41–56. doi:10.1053/ybeog.2003.0360. PMID 12758225.
Reiter EO, Norjavaara E (2005). "Testotoxicosis: current viewpoint". Pediatr Endocrinol Rev. 3 (2): 77–86. PMID 16361981.
Kreher NC, Pescovitz OH, Delameter P, Tiulpakov A, Hochberg Z (Sep 2006). "Treatment of familial male-limited precocious puberty with bicalutamide and anastrozole". The Journal of Pediatrics. 149 (3): 416–20. doi:10.1016/j.jpeds.2006.04.027. PMID 16939760.
Tao, Ya-Xiong (November 2008). "Constitutive activation of G protein-coupled receptors and diseases: Insights into mechanisms of activation and therapeutics". Pharmacology & Therapeutics. 120 (2). Elsevier: 129–148. doi:10.1016/j.pharmthera.2008.07.005. PMC 2668812. PMID 18768149.

External links

Testotoxicosis at NIH's Office of Rare Diseases

Classification	D ICD-10: E30.1 OMIM: 176410 MeSH: C536961
External resources	Orphanet: 3000

Gonadal disorder

Ovarian

Testicular

Enzymatic	5α-reductase 2 deficiency 17β-Hydroxysteroid dehydrogenase deficiency Aromatase excess syndrome
Androgen receptor	Androgen insensitivity syndrome Mild androgen insensitivity syndrome Partial androgen insensitivity syndrome Complete androgen insensitivity syndrome Familial male-limited precocious puberty
Other	Sertoli cell-only syndrome

General

Cell surface receptor deficiencies

G protein-coupled receptor
(including hormone)

Class A	TSHR (Congenital hypothyroidism 1) LHCGR (Luteinizing hormone insensitivity, Leydig cell hypoplasia, Male-limited precocious puberty) FSHR (Follicle-stimulating hormone insensitivity, XX gonadal dysgenesis) GnRHR (Gonadotropin-releasing hormone insensitivity) EDNRB (ABCD syndrome, Waardenburg syndrome 4a, Hirschsprung's disease 2) AVPR2 (Nephrogenic diabetes insipidus 1) PTGER2 (Aspirin-exacerbated respiratory disease)
Class B	PTH1R (Jansen's metaphyseal chondrodysplasia)
Class C	CASR (Familial hypocalciuric hypercalcemia)
Class F	FZD4 (Familial exudative vitreoretinopathy 1)