Development in a 46 XX boy with positive SRY gene.
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.
Rego
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A
Endocrine Division, Hospital Xeral-Cíes de Vigo, Spain.
Margarit
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E
Estivill
X
X
Regal
M
M
García-Mayor
R V
RV
D002648:Child; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood; D006801:Humans; D007621:Karyotyping; D008279:Magnetic Resonance Imaging; D008297:Male; D009687:Nuclear Proteins; D009765:Obesity / Q000235:genetics; D010641:Phenotype; D016133:Polymerase Chain Reaction; D012729:Sex Chromosome Aberrations; D012732:Sex Determination Analysis; D051876:Sex-Determining Region Y Protein; D013737:Testis / Q000473:pathology; D014157:Transcription Factors; D014998:Y Chromosome
D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; C497745:SRY protein, human; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors; D005640:Follicle Stimulating Hormone