ESPE Abstracts

Background: Mutations in CYP19A1 gene have been described in both females and males and to date only 20 cases with aromatase deficiency have been reported. In newborns, aromatase deficiency should be considered in the aetiology of 46, XX DSD, after ruling out congenital adrenal hyperplasia.

Objective and hypotheses: Report of a case with CYP19A1 mutation.

Method: Here we report a patient who was presenting at the age of 20 years old reared as boy, he had no palpable testis, hypoplastic scrotum, phallus was penis like=3–cm, there was a penoscrotal hypospadias, he was a product of consanguineous parent, his karyotype was 46, XX and SRY was negative. Pelvic sonar showed a small hypoplastic uterus and no testis could be identified. Testosterone and its precursors were normal excluding congenital adrenal hyperplasia, pathology of gonadal biopsy showed ovarian stroma negative for oocytic follicle. All these data were suggestive of aromatase deficiency that was confirmed by molecular investigation of the CYP19A1 gene.

Results: A novel splice site mutation in the donor splice site of exon 9 was identified in our patient, c.1263+1G>T (IVS9+1G>T). The mutation was found in the homozygous form in the patient and both parents were heterozygous for the mutation. Further, the mutation was not found in 200 normal chromosomes of Egyptian origin and was predicted to be disease causing by various bioinformatic tools.

Conclusion: This is the first report of such a rare disorder in an Egyptian patient with 46, XX DSD emphasising the importance of mutational analysis of CYP19A1 gene for appropriate management and better choice of sex.

Funding: This work was supported by the fund of IRD in collaboration with STDF in Egypt.