ESPE Abstracts

Background: To demonstrate the etiology of 46, XX sex reversal by investigating the clinical feature and its relationships with chromosomal karyotype and the SRY (sex-determining region Y) gene.

Methods: A child with genital ambiguity with hypospadias and bifid scrotum consulted to our endocrine OPD for further management. Clinical data was noted, and Karyotype analysis of G-banding in lymphocytes and Fluorescence in situ hybridization (FISH) were performed. FISH analyses were conducted on both metaphase spreads and interphase nuclei. The genomic DNA was isolated from EDTA whole blood. The isolated genomic DNA was checked for the presence of SRY and ZFY (Zinc finger chromosomal protein) genes to access the male factor via Polymerase Chain Reaction (PCR) followed by agarose gel electrophoresis.

Results: Examination of external genital showed bifid labio- scrotum sac, small phallus with ventral chordae with penoscrotal hypospadias. No history of consanguinity. The biochemical test reveals normal electrolytes and renal function. His testosterone basal of 0.014 ng/dl, post HCG stimulation testosterone was 399 ng/dl. Follicle-stimulating hormone was 1.32mIU/l (reference range: 0.26–3.0 IU/l) luteinizing hormone was 0.001 mIU/l (reference range: < 0.3 IU/l), and thyroid hormones, and serum cortisol were all within normal levels.17 OH progesterone was 0.2 ng/ml. Ultrasound examination showed that patient’s bilateral gonads were found lateral to the phallic shaft right and left gonads measuring 1 × 0.5 cm and 0.5 × 0.47 cm respectively; no Mullerian structures were identified. The karyotype was 46, XX. FISH analyses were conducted on both metaphase spreads and interphase nuclei which revealed a pair of X-chromosomes in all analyzed cells, ruling out mosaicism confirming conventional karyotyping results. By PCR, the most common Yp loci, SRY, and ZFY were detected in the patient sample confirming the presence of malefactors.

Conclusions: Our case puts in a new case of 46, XX male subject with SRY-positive gene and further demonstrates that the presence of SRY gene and the absence of major regions in the Y chromosome should lead to masculinized phenotype with genital ambiguity.

Keywords: 46, XX testicular disorder of sex development (DSD), SRY-positive