Abstract:Testicular Leydig cell hyperplasia was observed in two brothers presenting with progressive sexual precocity at 2 yr of age. Virilization was shown to result from increased secretion rather than decreased clearance of gonadal testosterone. Testosterone hypersecretion appeared to be gonadotropin independent, as basal and gonadotropin-releasing hormone-induced serum LH concentrations were low by both RIA and bioassay. Adrenal steroidogenesis was demonstrated to be normal by ACTH stimulation, dexamethasone suppre… Show more
“…Signs of puberty usually appear by 3-4 years of age in boys with FMPP (43). Histologic examination of testicular biopsy shows hyperplasia of Leydig cells (17). Affected boys have secondary sexual development with penile growth and bilateral enlargement of testes and pubic hair development indistinguishable from true puberty (44).…”
Section: Effects On the Malementioning
confidence: 98%
“…This autosomal dominant condition is termed familial male-limited precocious puberty (FMPP) (17) or testotoxicosis (18). Sporadic cases caused by new mutations of the LHR are called sporadic male-limited precocious puberty (SMPP).…”
“…Signs of puberty usually appear by 3-4 years of age in boys with FMPP (43). Histologic examination of testicular biopsy shows hyperplasia of Leydig cells (17). Affected boys have secondary sexual development with penile growth and bilateral enlargement of testes and pubic hair development indistinguishable from true puberty (44).…”
Section: Effects On the Malementioning
confidence: 98%
“…This autosomal dominant condition is termed familial male-limited precocious puberty (FMPP) (17) or testotoxicosis (18). Sporadic cases caused by new mutations of the LHR are called sporadic male-limited precocious puberty (SMPP).…”
“…Two Brazilian women, including a prepubertal girl with activating mutations, were asymptomatic and had normal hormonal profile. A PUBERDADE PRECOCE FAMILIAL de acometimento restrito ao sexo masculino, também conhecida como testotoxicose ou pela sigla FMPP (familial male-limited precocious puberty), é uma forma rara de desenvolvimento isossexual precoce em meninos (1)(2)(3). Esta condição genética de herança autossômica dominante é caracterizada por níveis elevados de testosterona, independentes da regulação do eixo hipotálamo-hipofisário (2,3).…”
Section: Introductionunclassified
“…Esta condição genética de herança autossômica dominante é caracterizada por níveis elevados de testosterona, independentes da regulação do eixo hipotálamo-hipofisário (2,3). Portanto, níveis puberais de testosterona estão associados a valores pré-puberais ou mesmo suprimidos das gonadotrofinas, indicando uma anormalidade de origem testicular (1,2).…”
Section: Introductionunclassified
“…Os caracteres sexuais secundários aparecem freqüentemente nos primeiros quatro anos de vida nos meninos com testotoxicose (1)(2)(3). O fenótipo, caracterizado pelo aumento testicular, virilização exagerada e aceleração do crescimento linear e da idade óssea, é decorrente do aumento da produção androgênica pelas células de Leydig hiperplasiadas (3).…”
RESUMOA testotoxicose é uma forma rara de puberdade precoce familial em meninos com herança autossômica dominante. Os caracteres sexuais secundários ocorrem geralmente antes dos 4 anos de idade. Nesta condição, níveis puberais de testosterona estão associados a níveis suprimidos ou pré puberais de gonadotrofinas.
ABSTRACTTestotoxicosis is a rare form of familial precocious puberty in boys with autossomal dominant inheritance. Secondary sexual features usually occur before 4 years of age. In this condition, testosterone are elevated with suppressed or prepubertal gonadotropin levels. Several germline activating mutations in exon 11 of the LH receptor gene have been described in boys with testotoxicosis. The molecular analysis of 8 Brazilian boys with testotoxicosis revealed 5 different mutations, 3 of them identified exclusively in Brazil: Ala568Val, Leu457Arg, and Leu368Pro, located in the third intracellular loop and in the III and I transmembrane helices, respectively. The Ala568Val mutation was found in 42.8% of the Brazilian families. Women with activating mutations, mother or sisters of boys with testotoxicosis, did not develop precocious puberty and showed normal reproductive function. Two Brazilian women, including a prepubertal girl with activating mutations, were asymptomatic and had normal hormonal profile. Somatic activating mutations of the LH receptor gene were recently identified in 3 boys with Leydig cell tumors. However, a recent report did not find such mutations in 4 Leydig tumors, 3 tecomas and 4
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.