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46,XY DSD due to impaired androgen production.
Mendonca, Berenice B; Costa, Elaine M F; Belgorosky, Alicia; Rivarola, Marco Aurelio; Domenice, Sorahia.
Afiliación
  • Mendonca BB; Hospital das Clinicas, Faculdade de Medicina da Universidade de Sao Paulo, Sao Paulo, Brazil. beremen@usp.br
Best Pract Res Clin Endocrinol Metab ; 24(2): 243-62, 2010 Apr.
Article en En | MEDLINE | ID: mdl-20541150
ABSTRACT
Disorders of androgen production can occur in all steps of testosterone biosynthesis and secretion carried out by the foetal Leydig cells as well as in the conversion of testosterone into dihydrotestosterone (DHT). The differentiation of Leydig cells from mesenchymal cells is the first walk for testosterone production. In 46,XY disorders of sex development (DSDs) due to Leydig cell hypoplasia, there is a failure in intrauterine and postnatal virilisation due to the paucity of interstitial Leydig cells to secrete testosterone. Enzymatic defects which impair the normal synthesis of testosterone from cholesterol and the conversion of testosterone to its active metabolite DHT are other causes of DSD due to impaired androgen production. Mutations in the genes that codify the enzymes acting in the steps from cholesterol to DHT have been identified in affected patients. Patients with 46,XY DSD secondary to defects in androgen production show a variable phenotype, strongly depending of the specific mutated gene. Often, these conditions are detected at birth due to the ambiguity of external genitalia but, in several patients, the extremely undervirilised genitalia postpone the diagnosis until late childhood or even adulthood. These patients should receive long-term care provided by multidisciplinary teams with experience in this clinical management.
Asunto(s)

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Trastornos del Desarrollo Sexual / Disgenesia Gonadal 46 XY / Andrógenos Tipo de estudio: Prognostic_studies Límite: Adult / Child / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Best Pract Res Clin Endocrinol Metab Asunto de la revista: ENDOCRINOLOGIA / METABOLISMO Año: 2010 Tipo del documento: Article País de afiliación: Brasil

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Trastornos del Desarrollo Sexual / Disgenesia Gonadal 46 XY / Andrógenos Tipo de estudio: Prognostic_studies Límite: Adult / Child / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Best Pract Res Clin Endocrinol Metab Asunto de la revista: ENDOCRINOLOGIA / METABOLISMO Año: 2010 Tipo del documento: Article País de afiliación: Brasil