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46,XX Male - Testicular Disorder of Sexual Differentiation (DSD): hormonal, molecular and cytogenetic studiesHomem 46,XX (DSD testicular): estudos hormonal, molecular e citogenético
(Sociedade Brasileira de Endocrinologia e Metabologia, 2010)
Low risk of impaired testicular sertoli and Leydig cell functions in boys with isolated hypospadias
(ENDOCRINE SOC., 2005-11)
Testicular dysfunction was observed in 57.1% and androgen end- organ defects in 7.2% of patients with hypospadias associated with cryptorchidism, micropenis, or ambiguous genitalia. In the remaining 35.7%, the disorder was ...
Complex 9p rearrangement in an XY patient with ambiguous genitalia and features of both 9p duplication and deletion
(2012)
[No abstract available]
Complex 9p rearrangement in an XY patient with ambiguous genitalia and features of both 9p duplication and deletion
(2012)
[No abstract available]
Ultrassonografia pélvica em crianças e adolescentes
(Colégio Brasileiro de Radiologia e Diagnóstico por Imagem, 2009)
O conhecimento das mudanças que ocorrem no útero e ovários durante a puberdade é fundamental ao investigar alterações da pelve feminina em crianças e adolescentes. O exame ultrassonográfico nestas pacientes é rotineiramente ...
Ambiguous genitalia by 9p deletion inherent to a dic(Y;9)(q12;p24)
(2005)
We describe here a 3-month-old male infant with brachy-plagyocephaly, short neck, widely spaced nipples, mild hypertonia, and ambiguous external genitalia but with both testes in the scrotum and no Müllerian derivates. His ...
Ambiguous genitalia by 9p deletion inherent to a dic(Y;9)(q12;p24)
(2005)
We describe here a 3-month-old male infant with brachy-plagyocephaly, short neck, widely spaced nipples, mild hypertonia, and ambiguous external genitalia but with both testes in the scrotum and no Mollerian derivates. His ...
Inactivating Mutations of the Human Luteinizing Hormone Receptor in Both Sexes
(THIEME MEDICAL PUBL INCNEW YORK, 2012)
The human luteinizing hormone/chorionic gonadotropin receptor (LHCGR) plays a fundamental role in male and female reproductive physiology. Over the past 15 years, several homozygous or compound heterozygous loss-of-function ...
A novel WT1 heterozygous nonsense mutation (p.K248X) causing a mild and slightly progressive nephropathy in a 46,XY patient with Denys-Drash syndrome
(SPRINGER, 2011)
WT1 mutations have been described in a variety of syndromes, including Denys-Drash syndrome (DDS), which is characterized by predisposition to Wilms` tumor, genital abnormalities and development of early nephropathy. The ...