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

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 11beta-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.

Transition from Pediatric to Adult Healthcare: Assessment of Specific Needs of Patients with Chronic Endocrine Conditions

“…The complexities of CAH, HH and GHD in teenage life demand that the clinical team give subjects special attention during transition from pediatric to adult care [18,19,20,21,22,23,24]. Unfortunately, as mentioned by a German and an English group investigating CAH transition [25,26], a considerable number of CAH patients is lost to regular and competent follow-up once they move out of pediatric care. This is probably the case for other endocrinopathies and could be the result of insufficient collaboration between pediatric and adult endocrinologists at the time of transition.…”

Patients with Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency Can Achieve Their Target Height: The Leipzig Experience

“…Regular outpatient visits every 3 months serve two goals, especially during puberty [3, 29, 30]. Firstly, they encourage compliance.…”

Congenital Adrenal Hyperplasia in Adulthood: Do Men Need to Continue Treatment?

“…The basic biochemical defect of CAH, i.e. insufficient cortisol production by the adrenal glands, is a lifelong condition; there is no reason to believe that the adrenals may ‘recover’ at any time during adulthood, although the dosage requirements may be different in adults [4]. It is necessary to ensure that CAH patients – in analogy to patients with Addison disease – are repeatedly informed about the symptoms of adrenal insufficiency and the need to increase glucocorticoid doses in situations of physical or psychological stress.…”

“…In adults, the goals of therapy and the doses required to achieve those goals are different. Therefore, the paediatric doses of glucocorticoids and mineralocorticoids should be re-evaluated at the time of transition and at regular intervals thereafter in order to avoid lifelong overtreatment [4]. …”

“…We propose that at the time of transition to adult care (usually around the age of 17–18 years) the CAH patient be transferred by the paediatric endocrinologist to the internist during the course of an extensive consultation, summarizing the patient’s development and treatment up until this point [4,5,6]. …”