Endocrine Abstracts

Sex reversal syndrome (SRS) is a kind of human genetic disease about gender dysplasia, which is characterised by inconsistency between gonadal sexuality and chromosome sexuality. The clinical types include 46, XY female SRS and 46, XX male SRS. The early studies of human gonadal differentiation found that human Y chromosome contains testis-determining factor (TDF) found that the sex-determining region Y (SRY) gene, which is located in Y chromosome, was the best candidate gene for TDF, and confirmed that protein encoded by it played an important role in the process of sex determination. 46, XX male SRS is characterized by the presence of a 46, XX karyotype; male external genitalia ranging from normal to ambiguous; two testicles; azoospermia; and absence of Müllerian structures. Approximately 80% of individuals with 46, XX testicular DSD present after puberty with normal pubic hair and normal penile size, but small testes, gynecomastia, and infertility resulting from azoospermia. It is generally a result of unequal crossing over between X and Y chromosomes. Approximately 20% of individuals with 46, XX male SRS present at birth with ambiguous genitalia. Gender role and gender identity are reported as male. If untreated, males with 46, XX male SRS experience the consequences of testosterone deficiency.

We report a case of XX male with chief complaints of infertility.

A 29-year-old infertile male was referred to the Urology Department. His height was 166 cm and weight 74 kg. He had normal external male genital phenotype and secondary sex characters. No gynecomastia was noted. At physical examination soft and atrophic testes were palpated. Laboratory analysis and testis biopsies indicated nonobstructive azospermia. Serum concentrations of LH and FSH were elevated at 12.8 mIU/ml (normal range 1.2–8.75 mIU/ml) and 31.88 mIU/ml (normal range 1.3–13.8 mIU/ml) respectively. Testosterone hormones level was normal at 4.8 ng/ml (normal adult male range 2.8–11 ng/ml), as was the serum prolactin concentration at 9 ng/ml (normal range 1.2–29 ng/ml). Peripheral blood cultures from this phenotypically normal male showed a normal female. Chromosomal analysis showed 46, XX karyotype.

In conclusion, a multidisciplinary approach should be adopted in the management of 46, XX individuals. All patients with azoospermia must be karyotyped. Sperm donation remains the only fertility treatment available. The 46, XX patients need lifelong followup led by an endocrinologist with regular imaging of the gonads, bone density measurements, baseline blood tests, and testosterone supplementation. Psychological support is a key part of a holistic approach.