Editor—In XY subjects, the testes are influenced by the activity of the sex determining region Y (SRY) gene and its abnormal function usually results in various degrees of sex reversal.1 However, as suggested by several authors,2-5 abnormal sexual development may also be caused by errors in genes located on either the X chromosome (the dosage sensitive sex reversal locus (DSS) at Xp21.3) or autosomes. A few reports also describe abnormal sex development in male patients presenting with 6q chromosome rearrangements,6 7 but a more precise localisation at this level of a gene involved in sex determination has not been done.

The present report describes a 46,XY subject of Algerian origin, presenting with complete gonadal failure, abnormal external genitalia, and multiple congenital abnormalities. At birth, bilateral undescended testes, glandular hypospadias, and hypoplastic penis were noted. However, owing to sociocultural conditions, no investigations were performed until the age of 34 years, when he was assessed for infertility and learning disability. His phenotype included several dysmorphic features: squint, full lips, broad nasal root, large and low set ears, mildly short neck, gynaecomastia, widely spaced nipples, dorsal and lumbar scoliosis, and gynaecoid morphology. The external genitalia were hypoplastic and no gonads were found in the scrotum. However, the patient presented with post-androgen therapy virilisation, including sparse pubic and facial hair. Xray examination of the skeleton showed L5-S1 vertebral fusion and bilateral lysis of the vertebral isthmus, increased …