ESPE Abstracts (2014) 82 P-D-2-2-281

Nonclassic CYP21A2 Deficiency: Diagnosis and Clinical Evolution

Cristina Luzuriagaa, María Laura Bertholta, Cristina Naranjoa & Begoña Ezquietab


aHospital Universitario Marques de Valdecilla, Santander, Spain; bHospital Gregorio Marañon, Madrid, Spain


Background: The nonclassic congenital adrenal hyperplasia (CAH) is often presented as isolated premature pubarche in childhood. Definitive diagnosis is genetic.

Objective and hypotheses: To describe patients diagnosed in our hospital, clinical signs and laboratory results that lead to genetic study. To analyze adult height.

Method: Descriptive retrospective study of our population with genetic confirmation.

Results: Twenty patients: 14 girls and six boys. Reason of consultation: premature pubarche 16, family history 3 (three family, six patients), short stature 1 and clitoral hypertrophy 1. Different degree of bone acceleration. We separeted into two groups: group 1 with no severe genetic mutation (two mild mutations) seven patients; group 2: 13 patients, mild-severe mutation. Comparing the two groups: age at diagnosis 7.3±2.9 vs 7.6±1.5 years. Bone age acceleration: 1.5±1.3 vs 2.6±1.0 years. 17O-HP 37.2 (7.8–70.0) vs 76.3 (21.0–162.0) ng/ml (significant). Treatment: no treatment two patients (group 1) vs three (group 2), hydrocortisone 4 vs 5; hydrocortisone+triptorelin 1 vs 3; triptorelin 0 vs 2. Twelve patients reached final height: 5 vs 7. Two patients exceed target height. Two under target height (one of group 1: untreated, another of group 2: treated). Only one patient with adult height <p3 (current Spanish population). No primary amenorrhea, two patients with functional ovarian hyperandrogenism. Two men with azoospermia (one patient group 1 and other group 2). Mutations found: p.Val282Leu +p.Val282Leu (six), p.Val282Leu+p.Pro454Ser (one), p.Val282Leu+c.293-13A/C>G (one), p.Val282Leu+(c293-13A/C>G; c.332-339del)(1), p.Val282Leu+c.332-339del (two), p.Val282Leu+p.Gln319Stop (one), p.Val282Leu+(p.Gln319Stop; p.Ile173Asn) (one), p.Val282Leu+(p.Gln319Stop; p.Arg357Trp) (three), p.Val282Leu+gene conversion (three), p.Val282Leu +c.1205_1206delAT (one).

Conclusion: In our study predominate presence of severe mutation, which must be taken into account for genetic counseling. Premature pubarche and advanced bone age are the main clinical signs. We got good results of adult height in both groups with hydrocortisone treatment, triptorelin or combined. Unable to ensure that no treatment deteriorate adult height. Larger studies are necessary. In this type of CAH we recommend monitoring reproductive function.

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