XY sex‐reversed campomelia ‐ possibly an X‐linked disorder?

Sirs, Hoefnagel et al. (1978) recently recorded two patients with campomelic dwarfism and XY gonadal dysgenesis, bringing the total of such cases with sex-reversal to at least seven (Gardner et al. 1970, Hovmoller et al. 1977, Rochiccioli et al. 1977). Another such patient has recently come to my attention. The infant, a phenotypic female, was transferred to the University of Kansas Hospital at the age of 6 hours because of respiratory distress. On examination she was found to be 41 cm in length with a head circumference of 36.5 cm and a chest circumference of 30 cm. The occiput was flat, the head appeared large compared to the face, micrognathism was present, the eyes were small but widely set, and there was a cleft extending through the posterior hard and all of the soft palate. The larynx was described as narrow at the time of intubation. There was a left thoracic scoliosis and the clitoris appeared large. Both femurs were bowed anteriorly and there were cutaneous dimples over both tibias. Bilateral equinovarus deformities were present. X-rays showed incomplete development of the right side of the thoracic vertebral bodies. The ribs were slender. Both femurs and both tibias were bowed. There was no craniosynostosis and the upper extremities were normal. A peripheral blood karotype showed a consistent 46,XY pattern in all metaphases. The infant developed progressive respiratory difficulty and expired on the fifth hospital day, At autopsy she was found to have an infantile uterus, vagina, and bilateral fallopian tubes. An ovary was present on the left but no gonad was identified on the right. Khajavi et al. (1976), in an analysis of 9 personal cases and others from the literature, concluded that the campomelic syndrome was heterogeneous and could be subdivided into three groups. The classic syndrome has all the skeletal features as reported in the present case and is termed the long-limbed type. The others are the short-limbed, normocephalic and the short-limbed, craniosynostotic varieties, respectively. All instances of XY-sex reversal in which sufficient data are available for analysis, have been recorded in patients with the longlimbed type of campomelic syndrome, thereby providing evidence that the condition is even more heterogeneous than originally anticipated. Moreover, the gonadal pathology in the sex-reversed campomelic syndrome has not been consistent, Gardner et al. (1970) describing embryonal testicular tissue, the other reports recording ovarian histology with varying degrees of differentiation. Unfortunately, the single ovary in the present case was inadvertently not sampled at necropsy, so the issue remains unclarified. I t would appear that long-limbed campomelic syndrome is inherited as an auto-