Management of Congenital Adrenal Hyperplasia: Results of the ESPE Questionnaire

Abstract

The management of children and adolescents with congenital adrenal hyperplasia (CAH) remains difficult. To assess the current European practice in diagnosis and management of CAH, an ESPE (European Society for Paediatric Endocrinology) survey was circulated in 2000/2001. The questionnaire was answered by 34% of ESPE members, representing 125 institutions which cared for 6,553 CAH patients. Paediatric endocrinologists, surgeons, gynaecologists, geneticists, and psychologists are involved in the immediate care of the CAH neonate and his family. 44% of centres take part in neonatal screening programmes. In families at risk, prenatal dexamethasone therapy is started at a median gestational age of 6 weeks in a median dose of 20 µg/kg/day. 53% reported maternal adverse events, 8% observed adverse fetal events. Regarding feminizing surgery, 33% reported simultaneous clitoric reduction and vaginoplasty during infancy. However, clitoridectomy is still reported by 13% of centres, and vaginal dilatations have been performed by 27%. Although 71% of female CAH patients with psychosexual problems, only 17% undertake routine psychodiagnostics and counselling. Hydrocortisone is the substance used for the treatment of CAH during growth in 84%; the median dose (mg/m²/day) is 17.5 in infants, 15 in children and adolescents, and 13.75 in adults. The glucocorticoid dose is increased two- to sixfold during intercurrent stress. Mineralocorticoid is administered in cases of clinically manifest salt wasting and of elevated plasma renin activity, to decrease high glucocorticoid doses, or according to genotype. All participating ESPE members feel the need for further improvement in prenatal diagnosis and treatment, compliance during puberty, screening programmes, psychological aspects, and corrective surgery.

Genital sensation after feminizing genitoplasty for congenital adrenal hyperplasia: a pilot study

“…Not to include these patients is inappropriate and introduces bias. Second, although clitorectomy is no longer thought to be used in the UK or USA, it is still practised elsewhere, and the present study highlights the longterm problems with this approach [10].…”

Diagnosis and treatment of adrenal insufficiency including adrenal crisis: a Japan Endocrine Society clinical practice guideline [Opinion]

“…In adult patients with 21-OHD who no longer have the problem of growth retardation, various types of GC have been used. According to a report from Europe, 36% of cases of adult congenital adrenal hyperplasia have been treated with HC (average 13.75 mg/m 2 ), 14% with prednisolone (average 4.74 mg) and 33% with dexamethasone (average 0.5 mg/day) [92]. However, various metabolic and bone abnormalities have been reported in adult patients with 21-OHD [93][94][95][96].…”

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

“…According to the Europe-wide survey of the European Society for Paediatric Endocrinology, the current treatment of CAH in children consists of hydrocortisone (9–37.5 mg/m 2 body surface area per day), divided into three single doses, the first given as early as 03.30 h and subsequent doses at 07.00 h and 19.00 h. For mineralocorticoid substitution, fludrocortisone is given at doses of between 25 and 350 µg/day (infants) or between 25 and 200 µg/day (older children and adults) [17]. The mineralocorticoid is given in two doses, in the morning and at noon.…”