• 作者：F.J. Climent Alcalá ; ^a ; ^{fjcliment@gmail.com} ; M.A. Molina Rodr&#237 ; guez^b ; I. Gonzá ; lez Casado^b ; L. Osona Bris^b ; L. Salamanca Fresno^b ; J. Guerrero-Ferná ; ndez^b ; M.L. Mart&#237 ; nez-Fr&#237 ; as^c ; R. Gracia Bouthelier^b
• 关键词：Disgenesia gonadal ; Deleci&oacute ; n 9p ; Retraso mental ; Cuerpo calloso ; Diferenciaci&oacute ; n sexual ; DMRT1 ; DMRT2
• 刊名：Anales de Pediatr¨ªa
• 出版年：2010
• 出版时间：March 2010
• 年：2010
• 卷：72
• 期：3
• 页码：210-214
• 全文大小：586 K

ass=""h4"">Background

Many genes are involved in testicular differentiation. The alterations of these genes are responsible for sexual differentiation disorders with 46 XY karyotype.

ass=""h4"">Case

We report the case of a newborn who had an interscrotal hypospadias, palpable gonads and hypoplastic penis. Karyotype 46 XY. Abdominal ultrasound revealed testes and absence of M¨¹llerian remnants. There was a good response to the short gonadotrophin test. At one year he had signs of psychomotor retardation and hypotonia. The magnetic resonance revealed frontal-temporal atrophy and a decrease in the corpus callosum. Testicular biopsy was compatible with gonadal dysgenesis. A preoperative cystography showed a vaginal remnant. Due to the presence of a sexual differentiation disorder, psychomotor retardation and facial dysmorphism, we requested a high-resolution karyotype: deletion 46, XY, del (9p) (p23-pter). Ish tel (9p-).

ass=""h4"">Discussion

Many genes are involved in testicular differentiation, some of which also affect the development of other tissues. In the short arm of chromosome 9, two genes, DMRT1 and DMRT2, are involved in sexual differentiation. Their alterations have also been described as causing mental retardation. In the evaluation of 46,XY disorders of sex differentiation, the accompanying signs are very important for guiding the genetic study.