ESPE Abstracts (2018) 89 P-P2-007

Miscarriages in Families with a Child with Classic Congenital Adrenal Hyperplasia and 21-Hydroxylase Deficiency (CAH)

Theresa Pengera, Johannes Hessa, Michaela Marxa, Patricia Oppeltb & Helmuth-Günther Dörra


aPediatric Endocrinology, Department of Pediatrics, University Hospital of Erlangen, Erlangen, Germany; bPediatric Gynecology, Department of Gynecology and Obstetrics, University Hospital of Erlangen, Erlangen, Germany.


Background: The most common form of congenital adrenal hyperplasia is 21-hydroxylase deficiency (CAH). In women with classic CAH, the fertility rate is lower than in the general female population, and an increased rate of miscarriages has been reported. There are no data on the incidence rate of miscarriages in families with an offspring that have classic CAH.

Methods: The families came from different parts of Germany and attended the annual meeting of the German CAH support group for parents and patients which was held in Hamburg in September 2014. The data was collected pseudonymously by a questionnaire which was completed by the families at home. The families also accepted the responsibility to address this question to the families of their married siblings. In all, the data of 50 families with at least one child with CAH, and the data of 164 parental siblings were available for evaluation. Miscarriage rates were calculated in relation to the reported pregnancies.

Results: Twenty-two miscarriages were reported from 19 families. At least one miscarriage occurred in 38% of the families, three families experienced two miscarriages and 16 families had one miscarriage each. The mean miscarriage rate was 15.8%. The heterozygous mothers had a total of 90 siblings (41 m, 49 f), while 74 siblings (33 m, 41 f) were reported from the heterozygous fathers. The miscarriage rate was 10.1% in the families of the mothers’ siblings, and 11.4% in the families of the fathers’ siblings. The genotype was known in all parents that have an offspring with CAH, but not defined in 82% of the maternal siblings, and in 86% of the paternal siblings. No child with classic CAH has been diagnosed in any of the sibling’s families to date.

Conclusion: Our data show that the miscarriage rate in German families with a child with classic CAH is not elevated.

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