Pregnancies in patients with congenital adrenal hyperplasia with complete or almost complete impairment of 21-hydroxylase activity.
OBJECTIVE
To show that, with appropriate therapy, women with classic congenital adrenal hyperplasia (CAH) can become pregnant.


METHODS
Observational clinical study.


METHODS
University hospital.


METHODS
Adult young women with CAH: three with the salt-wasting form and four patients with simple virilizing CAH due to severe homozygous or compound heterozygous mutations of the CYP21B gene (deletions, I172N in exon 4 and nt656A/C-->G in intron 2) who wished to become pregnant.


METHODS
After confirmation in the first patient of the beneficial effect of additional treatment with fludrocortisone in lowering 17alpha-hydroxyprogesterone (17-OHP) levels, five other patients were treated with hydrocortisone as three daily doses at 8-hour intervals and fludrocortisone 0.1-0.2 mg daily divided into two to three doses. One patient received glucocorticoid alone.


METHODS
Treatment was controlled on the basis of morning salivary 17-OHP estimates and plasma renin concentrations.


RESULTS
Nine pregnancies occurred in six women. The course of the pregnancies (except one spontaneous abortion) was normal without any other modification of therapy. Only the women treated with hydrocortisone alone did not become pregnant.


CONCLUSIONS
When treated with a combination of glucocorticoids and mineralocorticoids, sexually active patients with the classic phenotype of CAH can become pregnant.
Hoepffner
Wolfgang
W
Children's Hospital of the University of Leipzig, Leipzig, Germany. GAUR@medizin.uni-Leipzig.de
Schulze
Egbert
E
Bennek
Joachim
J
Keller
Eberhard
E
Willgerodt
Helmut
H
D019326:17-alpha-Hydroxyprogesterone / Q000032:analysis; D000312:Adrenal Hyperplasia, Congenital / Q000503:physiopathology* / Q000628:therapy; D000328:Adult; D005260:Female; D005438:Fludrocortisone / Q000008:administration & dosage; D006801:Humans; D006854:Hydrocortisone / Q000008:administration & dosage; D011247:Pregnancy; D011248:Pregnancy Complications / Q000503:physiopathology* / Q000628:therapy; D012463:Saliva / Q000737:chemistry; D013255:Steroid 21-Hydroxylase / Q000235:genetics*
D019326:17-alpha-Hydroxyprogesterone; D013255:Steroid 21-Hydroxylase; D005438:Fludrocortisone; D006854:Hydrocortisone