ESPE Abstracts (2015) 84 P-3-624

Clinical and Genotypic Characterization of Simple Virilising Forms of Congenital Adrenal Hyperplasia

Rita Cardosoa, Susana Pachecob, Joana Serra Caetanoa, Isabel Dinisa & Alice Mirantea

aCoimbra Pediatric Hospital, CHUC, Coimbra, Portugal; bFernando Fonseca Hospital, Lisbon, Portugal

Background: Congenital adrenal hyperplasia (CAH) is a recessive disease in 90% caused by 21-hidroxilase deficiency. The clinical manifestations are related with the severity of enzyme deficiency and are classified in classical and non classical forms. The classical form is the most severe with genital ambiguity in female newborns and universal virilisation. In 75% there is also aldosterone deficiency with salt wasting.

Objective and hypotheses: To describe the phenotypical manifestations and genotype of a cohort with simple virilising (SV) form of CAH.

Method: Retrospective analysis of 13 children with clinical SV CAH, with genetic confirmation followed in a pediatric endocrinology unit.

Results: We analysed 13 children with SV CAH, six female. Age at diagnosis was 4.0±1.05 years (mean±S.D.), with earlier diagnosis in females. There was a prenatal diagnosis (because of family history) and a neonatal screening diagnosis. Presentation was variable with virilisation in all, precocious pubarche and growth acceleration. 66% of females with genital ambiguity needed surgical correction. Mean 17-hidroxiprogesterone at diagnosis was 121.5 ng/ml and total testosterone 179 ng/dl. The genotype included three homozygous for 1004T>A mutation (most frequent). Since diagnosis all were treated with hydrocortisone and 38.5% with fludrocortisone. LHRH analogue was used in seven patients (57% male), initiating at 6.3±1.5 years and during 4.6±2 years. In the five children with final height, the difference between target height and final height was −3.7 cm (S.D.: 2.9 cm). z-score was higher at diagnosis (mean 3.3), but similar to target height at the end of puberty (mean: −0.83).

Conclusion: The concordance between final height and target height was related with relatively early diagnosis and treatment. Precocious virilisation in all and genital ambiguity with surgical correction need in 66% of females reinforce the attempted management. Our study supports inclusion of CAH in the newborn screening particularly for the classical form patients.

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