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