title: [Health status of adults with congenital adrenal hyperplasia due to 21-hydroxylase deficiency].
abstract: Congenital adrenal hyperplasia (CAH) is the commonest genetic endocrine disorder. Mutations in the 21-hydroxylase gene account for 95 % of cases. CAH is classified according to symptoms and signs and to age of presentation. The clinical phenotype is typically classified as classic, the severe form, or nonclassic (NCF), the mild or late-onset form. Classic CAH is a life-long chronic disorder. In childhood, treatment focuses on genital surgery and optimization of growth and pubertal development. Priorities change with increasing age, typically focusing on fertility in early adult life and prevention of metabolic syndrome and osteoporosis in middle and older age. Recent studies highlight the importance of long-term follow-up of these patients and of transitional care between childhoods to adult life. In nonclassic CAH women, subfertility is mild compared with the classic form and seems to be mainly due to hormonal imbalance. Menstrual cycle or ovulation disorders observed in these women who consulted for infertility are in most cases corrected by hydrocortisone treatment, which led to simultaneous lowering of plasma androgen levels and rapid occurrence of pregnancy. Hydrocortisone also reduces the incidence of miscarriages. Several studies have reported that near 60 % of nonclassic CAH patients are carriers of a severe mutation. These patients may therefore give birth to a child with the classical form of CAH if their partner is also carrying a severe mutation. Due to the high frequency of CYP21A2 mutations in the general population, it is essential to genotype the partner of NC-CAH patients with one severe mutation to offer genetic counselling.
authors.affiliation: AP-HP, hôpital Pitié-Salpêtrière, service d'endocrinologie et médecine de la reproduction et centre de référence des maladies endocriniennes rares de la croissance, 75013 Paris, France; UPMC université Paris 06, 75005 Paris, France.
authors.forename: Anne
authors.initials: A
authors.lastname: Bachelot
authors.affiliation: AP-HP, hôpital Pitié-Salpêtrière, service d'endocrinologie et médecine de la reproduction et centre de référence des maladies endocriniennes rares de la croissance, 75013 Paris, France; UPMC université Paris 06, 75005 Paris, France. Electronic address: philippe.touraine@psl.aphp.fr.
authors.forename: Philippe
authors.initials: P
authors.lastname: Touraine
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D000328:Adult; D000367:Age Factors; D000728:Androgens / Q000097:blood; D002869:Chromosome Aberrations; D003299:Cooperative Behavior; D004252:DNA Mutational Analysis; D005260:Female; D005808:Genes, Recessive; D006580:Genetic Carrier Screening; D005817:Genetic Counseling; D005838:Genotype; D006304:Health Status; D006801:Humans; D007231:Infant, Newborn; D007247:Infertility, Female / Q000209:etiology / Q000235:genetics / Q000628:therapy; D033183:Interdisciplinary Communication; D011247:Pregnancy; D013255:Steroid 21-Hydroxylase / Q000235:genetics
chemical_list: D000728:Androgens; C531510:CYP21A2 protein, human; D013255:Steroid 21-Hydroxylase