Cytomegalic type of congenital adrenal hypoplasia due to autosomal recessive inheritance

American Journal of Medical Genet ics 46475 (1993)

Letter to the Editor

Cytomegalic Type of Congenital Adrenal Hypoplasia due to Autosomal Recessive Inheritance

To the Editor:

Congenital hypoplasia of the adrenal glands is a rare condition. The cytomegalic type ofthe disorder is consid- ered an X-linked recessive trait [McKusick 1992: 3002001. However, in our department of clinical genetics we observed a case with congenital adrenal hypoplasia in a female small-for-date infant (CS 200888) who died at age 7 weeks. The postmortem examination showed severe hypoplasia of the adrenal glands with a diameter of 4 mm. The histological findings corresponded to those of the X-linked form of adrenal hypoplasia: The glands were composed of a fetal zone with large irregularly arranged vacuolated, predominantly eosinophilic cells which extended to the capsule without any clearcut divi- sion into definitive and fetal zones.

The second child of the same parents also was a girl. She was born as a small-for-date infant, too, and devel- oped the clinical picture and the biochemical findings of adrenocortical insufficiency. At 1 year of age her adrenal glands could not be identified by computed tomography. Therefore, she is being treated with hydrocortisone and fludrocortisone.

Received for publication October 20,1992; revision received De-

Address reprint requests to Dr. G. Krüger, Children’s University cember 14, 1992.

Hospital, Rembrandtstrasse 16/17, 0-2500 Rostock, Germany.

O 1993 Wiley-Liss, Inc.

To our knowledge, this is the first report of the cyto- megalic type of congenital adrenal hypoplasia in girls. Because the same disorder occurred in two sisters and the extended family history was unremarkable, autoso- mal recessive inheritance is most likely.

A detailed report will be published elsewhere. We would like to correspond with any colleague who has observed a similar case.

REFERENCE McKusick V (1992): “Mendelian Inheritance in Man.” Catalogs of Au-

tosomal Dominant, Autosomal Recessive, and X-linked Phe- notypes, 10th ed. Baltimore: Johns Hopkins University Press.

Gabriele Krüger Monika Mix Lothar Pelz Children’s Hospital

Helmut Dunker Institute of Pathological

University of Rostock, Germany Anatomy