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Exp Clin Endocrinol Diabetes 2004; 112(7): 343-355
DOI: 10.1055/s-2004-821013
Commentary

J. A. Barth Verlag in Georg Thieme Verlag KG Stuttgart · New York

Congenital Adrenal Hyperplasia - How to Improve the Transition from Adolescence to Adult Life

B. Kruse1 , F. G. Riepe2 , N. Krone2 , H. A. G. Bosinski3 , S. Kloehn1 , C. J. Partsch2 , W. G. Sippell2 , H. Mönig1
  • 1Department of Medicine I, Endocrine and Diabetes Unit, Universitätsklinikum Schleswig-Holstein/Campus Kiel, Christian-Albrechts-Universität zu Kiel, Germany
  • 2Department of Paediatrics, Division of Endocrinology, Universitätsklinikum Schleswig-Holstein/Campus Kiel, Christian-Albrechts-Universität zu Kiel, Germany
  • 3Division of Sexual Medicine, Universitätsklinikum Schleswig-Holstein/Campus Kiel, Christian-Albrechts-Universität zu Kiel, Germany
Further Information

Publication History

Received: June 16, 2003 First decision: August 18, 2003

Accepted: May 3, 2004

Publication Date:
07 July 2004 (online)

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Abstract

Congenital adrenal hyperplasia (CAH) is caused by a defect in the biosynthesis of cortisol that results in maximal activity of the hypothalamic-pituitary adrenal axis with hyperplasia of the adrenals and hyperandrogenism due to the accumulation of androgen precursors. In the salt-wasting subtype of the disorder, which accounts for appr. 75 % of patients with classical CAH, patients are unable to synthesise sufficient amounts of aldosterone and are prone to life-threatening salt-losing crises, whereas the simple virilising form is predominantly characterized by clitoris hypertrophy and posterior labial fusion. In addition, a non-classical variant can be discerned which in most cases is diagnosed at the time of puberty or early adolescence when hirsutism and menstrual irregularities may occur. The vast majority of CAH patients have 21-hydroxylase deficiency (90 - 95 %). Less common forms, such as 11β-hydroxylase deficiency, will not be discussed in this review.

Unfortunately, a considerable number of CAH patients is lost to regular and competent follow-up once they move out of paediatric care. This is most probably the result of insufficient co-operation between paediatric and adult endocrinologists at the time of transition from adolescence to adulthood. Furthermore, there is a lack of clinical guidance regarding psychosexual development in these patients. In this overview we will focus on special aspects of CAH treatment in adolescence and adulthood, and report on our 10-year experience with a transfer system for endocrine patients from paediatric to internal medical care, known as the “Kieler Modell”. For practical purposes, we here provide charts for follow-up of CAH patients that can be adapted for use in any endocrine outpatient clinic.

Key words

Congenital adrenal hyperplasia - transition - adulthood

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Prof. Dr. med. Heiner Mönig

Klinik für Allgemeine Innere Medizin
Arbeitsgruppe Endokrinologie/Diabetologie
Universitätsklinikum Schleswig-Holstein
Campus Kiel

Schittenhelmstraße 12

24105 Kiel

Germany

Phone: + 49(0)4315971393

Fax: + 49 (0) 43 15 97 13 02

Email: hmoenig@1 med.uni-kiel.de

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