The authors examined the gestational history of 122 women with 21-hydroxylase deficient CAH which was confirmed by genotyping in the majority. These women were born after 1948, followed in the investigators’ clinic (University Children’s Hospital, Munich) and were over 20 years of age at the time of study. Eighteen of the 122 women (15%) had delivered 31 children. The diagnosis of the 18 mothers was as follows: salt-losing, 1 of 48 total (2%); simple virilizing, 12 of 64 total (19%), and non-classical, 5 of 10 total (50%). The woman with salt-losing CAH had two miscarriages before delivering her child. One woman with non-classical CAH had two tubal pregnancies.
Conception occurred between 18-36 years (mean 28 years). The pregnancies were uneventful with the women receiving hydrocortisone, prednisone, prednisolone, or dexamethasone during gestation. Sixteen pregnancies required cesarean sections, primarily in women not having nonclassical CAH. Five of the 31 offspring were <10th percentile for gestational age. One developed an intracerebral hemorrhage. An additional patient was microcephalic at birth. None of the 18 female offspring had malformation of the external genitalia. Follow-up of the 31 offspring, 6 of whom were less than 5 years of age, 7 of whom were between 5-10 years, and 18 who were older than 10 years of age at the time of evaluation, revealed that all were growing, maturing, and developing normally.
Krone N, et al. Clin Endocrinol 2001;55:523-529.
First Editor’s Comment: These data are encouraging in that women with simple virilizing and non-classical CAH are often able to conceive and deliver healthy children, thus confirming previous reports. More data on the degree of adrenal suppression during pregnancy, and knowing post-natal neonatal adrenal function would have been of interest.
That only one of 48 women with salt-losing CAH had an infant illustrates the difficulties still encountered in the management of many of these patients. As Krone et al discuss, the relative infertility of women with CAH may be due to hormonal (hyperandrogenism), anatomic (inadequate reconstruction of the vagina), or psychosocial factors (behavioral masculinization, low marriage rate, and/or sexual preference). It is anticipated that prenatal detection and treatment of females with CAH and establishing neonatal screening programs for this disorder will change substantially the “natural history” of pregnancy in females with CAH.
Regarding surgical reconstruction of the external genitalia in the virilized female, while clitoroplasty may be appropriate in the neonatal period, vaginoplasty should be deferred until the peri menarchal period, as earlier reconstructive surgery is usually inadequate.1 In 39 adolescent phenotypic females (20 with CAH) (mean age at examination 15 years) who underwent vaginal surgery in infancy at a median age of 10 months, Creighton et al found that approximately 60% had a good or satisfactory cosmetic appearance of the external genitalia, but almost all required further surgery to permit use of tampons during menses and, presumably, sexual relations in adulthood.
Allen Root, MD
Second Editor’s Comment: Much is being discussed and written in 2002 regarding surgery on the genitalia of patients with enlarged clitorises. The current recommendation of many surgeons and pediatric endocrinologists is that surgery on the clitoris be delayed in most cases in the newborn period. For more details the reader is referred to references 1, 2, and 3 below. A lead article concerning the dilemmas of gender assignment and surgery will be published soon in GGH to provide up-to-date considerations for you our reader.
Robert M. Blizzard, MD
References
1. Creighton SM, et al. Lancet 2001;358:124-125.
2. Creighton S and Minto C. Brit Med J. 2001;323:1264-1265.
3. Rangecroft L and Members of the Working Party of the British Association of Pediatric Surgeons on the Surgical Management of Ambiguous Genitalia. Available from: http//www.baps.org.uk/documents/Intersex%20statement.htm.