Development in a 46 XX boy with positive SRY gene.
J Pediatr Endocrinol Metab
; 9(6): 623-6, 1996.
Article
em En
| MEDLINE
| ID: mdl-9004179
We present the case of an 11 year-old boy, who asked for medical attention due to obesity and assumed underdeveloped external genitalia. He did not have genital anomalies, penile length was 5.3 cm, testicular volume 2 ml and pubic hair Tanner stage 1. His bone age was normal for chronological age. Endocrinological study showed normal results for his age. Karyotype revealed a 46 XX pattern. MRI of external genitalia showed bilateral scrotal testes which were normal in diameter for his age. The check of his historical growth chart and follow-up revealed normal growth with spontaneous pubertal development. However, hormonal studies showed progressive increase of FSH levels, indicative of failure of germinal epithelium. The presence of Y sequences, including SRY gene, was demonstrated by PCR. Our observation is in agreement with the view that 46 XX male subjects diagnosed at peripubertal age with the SRY gene in the genome have a good prognosis regarding growth and development, but the principal problem of these patients is infertility.
Buscar no Google
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Fenótipo
/
Aberrações dos Cromossomos Sexuais
/
Análise para Determinação do Sexo
/
Fatores de Transcrição
/
Proteínas Nucleares
/
Proteínas de Ligação a DNA
Limite:
Child
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
J Pediatr Endocrinol Metab
Ano de publicação:
1996
Tipo de documento:
Article