Luteinizing hormone deficiency in hereditary congenital adrenal hypoplasia.
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Biomedical subjects
Publications and source records attributed to M Zachmann.
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Two cases of isolated glucocorticoid insufficiency or congenital adrenocortical unresponsiveness to ACTH-a variant of adrenocortical failure without mineralocorticoid insufficiency-are presented. Familial incidence was present only in case 1 since two of the siblings died after convulsions, possible related to hypoglycemia. The pathology specimens of one sibling were available for review showing complete lack of the fascicular zone and degenerative changes in the adrenals and evidence of increased ACTH secretion in the pituitary. In the patients who were given substitution therapy with hydrocortisone, studies of plasma renin and aldosterone revealed impairment of plasma aldosterone response to salt restriction, orthostatism and furosemide-induced diuresis combined with postural change. We conclude that in some cases of isolated glucocorticoid insufficiency, impairment of mineralocorticoid function may gradually develop, which is in contrast to the assumption of a congenital defect in the action of ACTH.
40 excessively tall girls with a mean height prediction of 182 cm were treated for serious psychosocial reasons continuously with ethinylestradiol 0.3 mg daily and with norethisterone 10 mg daily for 5-7 days every 4th week. Their age at the start of treatment ranged from 9.4 to 13.8 years, and the mean duration of treatment was 1.7 years. Bone age was assessed according to the TANNER-WHITEHOUSE-II (RUS) method, and height predictions were calculated using the age-specific regression equations of TANNER et al. Results were compared with those in 9 untreated control cases. Mean reduction of predicted height in all patients was 4.6 +/- 2.4 cm, and the most marked reduction was found in the youngest group of patients. However, even in patients after menarche and with a bone age above 14 years at start of treatment, there was still a considerable reduction of adult height. Bone maturation was accelerated by treatment (1.4 years per year), and the most marked acceleration was observed during the first 6 months (1.7 years per year). Growth velocity was normal or slightly subnormal during the first 6 months and very low thereafter. During treatment, there was a considerable weight gain which was, in part, lost again when treatment was discontinued. Posttherapeutic amenorrhea was infrequent, and normal and regular menstruations reappeared in the majority of the patients about 1 month after discontinuation. It is concluded that estrogen treatment in high doses is effective in reducing adult stature in girls and that somatic and psychological side effects are minimal when treatment is started after onset of spontaneous puberty. Although early treatment tends to give better results, beneficial results may still be obtained in older patients.
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Eight cases of males with persistent Müllerian structures are reported in four pairs of unrelated siblings. A genetically inherited failure to produce or to respond to the Müllerian-inhibiting substance elaborated by the fetal testis is postulated.
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