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Genotype, phenotype and hormonal levels correlation in non-classical congenital adrenal hyperplasia

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Abstract

Non-classical congenital adrenal hyperplasia (NCAH) is a morbid condition sustained by the reduced function of one of the enzymes involved in the adrenal steroid biosynthesis pathway, mainly the 21-hydroxylase. Different degrees of enzyme activity impairment determine different clinical pictures, with childhood or post-pubertal onset. The aim of this study was to evaluate the relationship between genotype, phenotype, and adrenal hormonal levels in a group of 66 patients affected by NCAH attending outpatient pediatric or endocrinological Clinics. Our findings show that age at pubarche/menarche was significantly younger, height SD score) and Δ bone age-chronological age were significantly higher in patients with a more severe enzyme activity impairment, while cutaneous androgenization and menstrual irregularities in post-pubertal girls were not related to the grading of genotype.

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Authors and Affiliations

  1. Division of Pediatric Endocrinology and Diabetology, O.I.R.M.S.Anna, Turin, Italy

    S. Einaudi & G. Tuli

  2. Division of Endocrinology, Diabetology and Metabolism, Department of Internal Medicine, University of Turin, Corso Dogliotti 14, I-10126, Turin, Italy

    E. Napolitano, G. Motta, M. Baldi & C. Manieri MD

  3. Division of Medical Genetic, University of Turin, Turin, Italy

    F. Restivo, E. Grosso, N. Migone & E. Menegatti

  4. Department of Medical and Experimental Medicine, Clinical Pathology Section, University of Turin, Turin, Italy

    F. Restivo

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  1. S. Einaudi
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  2. E. Napolitano
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  3. F. Restivo
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  4. G. Motta
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  5. M. Baldi
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  6. G. Tuli
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  7. E. Grosso
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  8. N. Migone
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  10. C. Manieri MD
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Correspondence to C. Manieri MD.

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Einaudi, S., Napolitano, E., Restivo, F. et al. Genotype, phenotype and hormonal levels correlation in non-classical congenital adrenal hyperplasia. J Endocrinol Invest 34, 660–664 (2011). https://doi.org/10.3275/7410

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