- Male-limited precocious puberty
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Male-limited precocious puberty Classification and external resources OMIM 176410 Male-limited precocious puberty (also known as familial sexual precocity and gonadotropin-independent testotoxicosis)[1] is a form of gonadotropin-independent precocious puberty in which boys experience early onset and progression of puberty.[2] 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[1] condition with a mutation of the LH receptor. Treatment is with drugs that suppress gonadal steroidogenesis, such as cyproterone acetate, ketoconazole or spironolactone and testolactone.[3]
Male-limited precocious puberty has an autosomal dominant pattern of inheritance.
References
- ^ a b 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.
External links
- Testotoxicosis at NIH's Office of Rare Diseases
Genetic disorder, membrane: cell surface receptor deficiencies G protein-coupled receptor
(including hormone)Class ATSHR (Congenital hypothyroidism 1) · LHCGR (Male-limited precocious puberty) · FSHR (XX gonadal dysgenesis) · EDNRB (ABCD syndrome, Waardenburg syndrome 4a, Hirschsprung's disease 2) · AVPR2 (Nephrogenic diabetes insipidus 1) · PTGER2 (Aspirin-induced asthma)Class BClass CCASR (Familial hypocalciuric hypercalcemia)Class FFZD4 (Familial exudative vitreoretinopathy 1)Enzyme-linked receptor
(including
growth factor)ROR2 (Robinow syndrome) · FGFR1 (Pfeiffer syndrome, KAL2 Kallmann syndrome) · FGFR2 (Apert syndrome, Antley-Bixler syndrome, Pfeiffer syndrome, Crouzon syndrome, Jackson-Weiss syndrome) · FGFR3 (Achondroplasia, Hypochondroplasia, Thanatophoric dysplasia, Muenke syndrome) · INSR (Donohue syndrome · Rabson–Mendenhall syndrome) · NTRK1 (Congenital insensitivity to pain with anhidrosis) · KIT (KIT Piebaldism, Gastrointestinal stromal tumor)JAK-STAT TNF receptor Lipid receptor LRP: LRP2 (Donnai-Barrow syndrome) · LRP4 (Cenani Lenz syndactylism) · LRP5 (Worth syndrome, Familial exudative vitreoretinopathy 4, Osteopetrosis 1)
LDLR (LDLR Familial hypercholesterolemia)Other/ungrouped Immunoglobulin superfamily: AGM3, 6
Integrin: LAD1 · Glanzmann's thrombasthenia · Junctional epidermolysis bullosa with pyloric atresia
EDAR (EDAR Hypohidrotic ectodermal dysplasia) · PTCH1 (Nevoid basal cell carcinoma syndrome) · BMPR1A (BMPR1A Juvenile polyposis syndrome) · IL2RG (X-linked severe combined immunodeficiency)see also cell surface receptors
B structural (perx, skel, cili, mito, nucl, sclr) · DNA/RNA/protein synthesis (drep, trfc, tscr, tltn) · membrane (icha, slcr, atpa, abct, othr) · transduction (iter, csrc, itra), trfkCategories:- Autosomal dominant disorders
- Congenital disorders
- Rare diseases
- Cell surface receptor deficiencies
- Genetic disorder stubs
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