Climent Alcalá F J, Molina Rodríguez M A, González Casado I, Osona Bris L, Salamanca Fresno L, Guerrero-Fernández J, Martínez-Frías M L, Gracia Bouthelier R
Hospital Universitario La Paz, Madrid, España.
An Pediatr (Barc). 2010 Mar;72(3):210-4. doi: 10.1016/j.anpedi.2009.10.018. Epub 2010 Feb 6.
Many genes are involved in testicular differentiation. The alterations of these genes are responsible for sexual differentiation disorders with 46 XY karyotype.
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 Müllerian 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-).
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.
许多基因参与睾丸分化。这些基因的改变是导致46 XY核型性分化障碍的原因。
我们报告一例新生儿病例，该患儿患有阴囊内尿道下裂、可触及性腺及阴茎发育不全。核型为46 XY。腹部超声显示睾丸且无苗勒管残余。促性腺激素短期试验反应良好。一岁时，他出现精神运动发育迟缓及肌张力减退体征。磁共振成像显示额颞叶萎缩及胼胝体减小。睾丸活检符合性腺发育不全。术前膀胱造影显示有阴道残余。由于存在性分化障碍、精神运动发育迟缓和面部畸形，我们要求进行高分辨率核型分析：46, XY, del (9p) (p23-pter)缺失，Ish tel (9p-)。
许多基因参与睾丸分化，其中一些基因也影响其他组织的发育。在9号染色体短臂上，DMRT1和DMRT2这两个基因参与性分化。它们的改变也被描述为可导致智力发育迟缓。在评估46,XY性分化障碍时，伴随症状对于指导基因研究非常重要。
