Endocrine Abstracts

Background: Classic 21-hydroxylase deficiency, due to severe mutations in CYP21B gene, is an uncommon disease (1/ 150 000). Salt-wasting form accounts for 75% of the cases and turns up with gluco- and mineralocorticoid deficiency as well as feminine hermaphroditism. Although wide psycho-social repercussion especially in women is known, the rarity of the disease and losses in follow-up may lead to a scarce clinical experience. We present 3 adult patients with CAH- SW followed regularly at our outpatient clinic.

Case 1. 21-year male: Mutation in CYP21B: G656// Q318X/ R235W. Salt-wasting crisis in neonatal period. Frequent descompensations in childhood with banal infections. Phaco-emulsification of bilateral steroidal cataract at 16 years. Psycho-social: low academic performance, but he’s working and leads an adequate social life. Height: 1.64 m, weight: 65 kg. Pectum excavatum. Low extremities’ lymphedema. Current hormonal study: 17OHProgesterone: 20.8 ng/ml, plasma renin activity: 2.92 ng/ml per h, total testosterone: 6.75 ng/dl, free testosterone: 16.3 pg/ml.

Case 2. 18 year woman (sister of 1): G656// Q318X/ R235W. Neonatal genital ambiguity. Clitoroplasty at 2 years old. Periodic vaginal dilatation. Frequent descompensations in childhood with banal infections. Menarche at 13 years, regular menses. Low academic performance, mutism, few and poor affective extrafamiliar relationships. 1.43 m, 66.5 kg. Low extremities lymphedema. 17OHP: 74.7, PRA: 3.27, androstendione: 2.9 ng/ml.

Case 3. 30 year woman: Delection CYP21B/del8pb. Neonatal genital ambiguity. Clitoroplasty and vaginoplasty at 2 and 4 years. Permanent urinary incontinence. Epilepsy. Multiple hospital admissions in child and adulthood. Osteoporosis. Menarche at 11 years, amenorreic periods. Personality disorder, uninhibited behaviour, hypersexuality, neglected hygiene, family dependence. 1.58 m, 75 kg. Severe hirsutism, red-wine striae, hyperpigmentation. 17OHProgesterone: 200, PRA: 20, androstendione: 8.

Comments: Management of adult patients with classic CAH needs to be tight, multidisciplinary and specialized, having particular care for psychosocial adaptative disorders. Interaction of chronic steroid treatment and androgenic excess determines high morbidity mainly in affected women.