X-Linked Ichthyosis and Cryptorchidism

P. Unamuno, C. Martin, E. Fernandez, Department of Dermatology, University of Salamanca, Po San Vicente, Salamanca (Spain) Sir, In X-linked recessive ichthyosis (XLI), the incidence of various congenital defects is quite high [10]. Association of XLI with mental retardation [1,4], hypogenita-lism [1, 3, 4, 7], cryptorchidism [1, 7, 8] and hyper-trophic pylorus stenosis [2, 6] have been described. The most frequent association may be cryptorchidism as recently pointed out by Traupe and Ropers [7], Traupe andHapple [8] and Traupe et al. [9]. They suggested that birth complications and cryptorchidism are closely linked in XLI and should be considered as clinical manifestations of steroid sulfatase deficiency [7–9]. We surveyed some of our patients with regard to cryptorchidism and perinatal complications. Diagnosis of XLI relied on genetic, clinical and histopathological evidence and was confirmed by biochemical investigations (steroid sulfatase testing, lipoprotein mobility). 22 patients aged 3–15 years from 17 different families were studied and examined. 9 of them presented with bilateral cryptorchidism or had undergone previous hormonal or surgical treatment because of cryptorchidism. In Spain, the mean frequency of cryptorchidism in the normal population is 3^1% with a decrease to 1% at the age of 2, whereas in premature babies cryptorchidism occurs with a frequency of up to 20% [5]. It is difficult to assess, whether earlier perinatal complications had occurred in our patients. However, we believe this is quite likely since we recorded in our families a high rate of perinatal mortality (10 cases, number of cases presenting XLI unknown) and abortions (24 cases, number of cases presenting XLI unknown). 2 boys with XLI were born beyond term and 5 children were mentally retarded, 1 of whom was also affected by XLI. Steroid sulfatase testing and lipoprotein electro-phoresis could be carried out only in living family members (affected boys, or mothers and sisters); material from aborted fetuses or stillborn children could not be studied. Therefore, definite conclusions cannot yet be drawn. Our data, however, seem to confirm the hypothesis that perinatal complications and cryptorchidism are a direct result of lacking steroid sulfatase activity. References Abe, K.; Matsuda, I.; Matsuura, N.; Murayama, T.; Uzuki, K.; Endo, M.; Miyakoshi, M.; Ukuno, A.: X-linked ichthyosis, bilateral cryptorchidism, hy-pogenitalism and mental retardation in two siblings. Clin. Genet. 9: 341–345 (1976). Garcia Perez, A.; Crespo, M.: X-linked ichthyosis associated with hypertrophic pyloric stenosis in three brothers. Clin. exp. Dermatol. 6: 159–161 (1981).