Search

Androgen insensitivity was demonstrated in two male siblings with partial masculinization of the external genitalia. They had a previously undescribed defect characterized postpubertally by high plasma testosterone and luteinizing hormone concentrations with low serum follicle-stimulating hormone levels. Studies in skin fibroblasts showed normal androgen receptor affinity and capacity for 5alpha-dihydrotestosterone (DHT), normal nuclear retention of the receptor-DHT complex, and normal conversion of testosterone to DHT.

Eleven girls with idiopathic precocious puberty had height predictions determined at various ages prior to obtaining mature heights. The Bayley-Pinneau method of height prediction produced both overestimation and underestimation. Height predictions were more accurate at chronologic ages approaching mature heights.

The availability of a commercial preparation of human growth hormone (hGH) prompted a study in children with hypopituitarism to determine the efficacy of a lower dose of hGH. Thirteen children, ages 4 years 3 months to 13 years 7 months, were given hGH concomitant with fluoxymesterone in an intermittent regimen. The hGH was given intramuscularly, 1 IU daily for 12 to 36 days in each course. There were four courses per year. The fluoxymesterone was given orally, 1 to 2 mg. The total amount of hGH administered was between 48 and 112 IU per year, as compared with the regimen of 312 IU per year, 2 units three times a week. The growth velocity in all 13 children improved, and the mean growth velocity was 6.4 cm +/- 1.13 SD. The mean bone age increment was 0.57 years +/- 0.14 SEM in one chronological year of therapy. The low dose regimen permits a significant reduction in cost of hGH without causing undue advance in bone age.

The 11 beta-hydroxylase deficiency (11OHD) form of congenital adrenal hyperplasia is diagnosed infrequently during the newborn period. A child presumed to have the 21-hydroxylase deficiency form of congenital adrenal hyperplasia was studied extensively as an infant. The diagnosis was based on ambiguous genitalia, elevated 17-ketosteroids, evidence of urinary 11-ketopregnanetriol, and salt loss. Severe hypertension was detected at 11 years, and 11 beta-hydroxylase deficiency was confirmed with elevated plasma 11-deoxycorticosterone and 11-deoxycortisol, low cortisol, and normalization of blood pressure following glucocorticoid replacement. Impaired aldosterone biosynthesis and salt loss were demonstrated during dexamethasone therapy. Salt loss during infancy does not distinguish between the 11 beta- and 21-hydroxylase deficiency forms of congenital adrenal hyperplasia.