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Mostrando ítems 21-30 de 122
Diagnosis of 5 alpha-reductase type 2 deficiency: Contribution of anti-Mullerian hormone evaluation
(Freund Publishing House LtdTel AvivIsrael, 2005)
Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency
(National Academy of Sciences, 2017-03)
Congenital adrenal hyperplasia (CAH), resulting from mutations in CYP11B1, a gene encoding 11β-hydroxylase, represents a rare autosomal recessive Mendelian disorder of aberrant sex steroid production. Unlike CAH caused by ...
As novas definições e classificações dos estados intersexuais: o que o Consenso de Chicago contribui para o estado da arte?New definitions and classifications of the intersexual states: in which the Chicago Consensus has contributed to the state of the art?
(Sociedade Brasileira de Endocrinologia e Metabologia, 2007)
Combined 17 alpha-hydroxylase/17,20-lyase deficiency due to a homozygous 25 BP duplication (NT 4157-4181) at exon 5 in the CYP17 resulting in a premature stop codon predicted by molecular modeling
(Sociedade Brasileira de Endocrinologia e Metabologia, 2008)
Combined 17alpha-hydroxylase/17,20-lyase deficiency is a rare, autosomal recessive form of congenital adrenal hyperplasia characterized by the coexistence of hypertension, caused by the hyperproduction of mineralocorticoid ...
46,XX Male – Testicular Disorder of Sexual Differentiation (DSD): hormonal, molecular and cytogenetic studies
(ABE&M, 2010-11)
The XX male syndrome – Testicular Disorder of Sexual Differentiation (DSD) is a rare condition characterized by a spectrum of clinical presentations, ranging from ambiguous to normal male genitalia. We report hormonal, ...
Coexistence of ovotestis and testicular regression in a boy with 46,XX/46,XY chimerism and sex ambiguity
(Soc Brasil GeneticaRibeirao PretBrasil, 1996)