Congenital Adrenocortical Hyperplasia Research Articles

Congenital adrenocortical hyperplasia associated with hyperplasia of aberrant (intra-testicular) adrenal tissue.

WILKINS (1) has had personal experience with 67 cases of virilizing adrenocortical hyperplasia, 50 in females and 17 in males. Testicular nodules were observed in at least 9 of these cases. In a few the nodule produced enlargement which was detectable clinically, but in most the nodule was first observed at autopsy. It is the purpose of this communication to describe a case of the adrenogenital syndrome produced by congenital adrenocortical hyperplasia with testicular involvement, and to discuss the nature of the lesion found in the testes. CASE REPORT The patient was a 2½-year-old boy, who had been born at the New Britain General Hospital on July 23, 1952, about four weeks before the expected date of delivery. The mother was a white woman whose blood group was Rh negative. At birth the infant's body weight was 5 pounds, 8 ounces. His blood group was B, Rh positive. The hemoglobin level was 15.4 Gm. per 100 cc, and the red blood cell count was 4.6 million per cu. mm. The red cells exhibited polychromasia ...

REVIEW ARTICLE

This paper gives a survey of the picture of electrolyte disturbance and virilization due to congenital adrenocortical hyperplasia, for which the term "dysadrenocorticism" has been coined. The series comprises 135 patients, 57 boys and 78 girls. The incidence of dysadrenocorticism in siblings was 24 per cent. The disorder manifested itself without any relation to birth order. The clinical manifestations referable to the electrolyte disturbance began during the first week in half the patients and in all of them before the age of 7 weeks. Apathy, hypotonicity and refusal of feedings were commonly described. Vomiting was present in 126 cases (93 per cent) and was described as projectile in 37 of these cases. Diarrhea was observed in 45 cases (33 per cent). Crises with episodes of circulatory collapse were described in 88 cases (65 per cent). Loss of weight during the first few months after birth occurred in at least 109 cases (81 per cent). Dehydration and/or emaciation were observed at the time of admission in 123 cases (91 per cent). Pigmentation of the skin was found in 13 cases (10 per cent). In male infants the external genitals were usually of normal appearance at birth. In 6 males, however, hypospadias was described. Enlargement of the penis was observed during the first 2 months of life in 7 patients, and in all boys more than 2 years of age. All the female infants except 3 presented pseudohermaphroditism with hypertrophy of the clitoris and common urogenital orifice. The laboratory investigations showed electrolyte disturbance as in adrenocortical insufficiency. The serum concentration of sodium was below 135 mEq./l. in 34 of 37 cases, and the concentration of potassium above 5.8 mEq./l. in 31 of 36 cases. Hypoglycemia was observed in only 1 of 24 cases. The urinary excretion of 17-ketosteroids in 30 infants ranged from 1.8 to 16 mg. daily. The excretion of 11-oxycorticoids in the urine was normal or increased. Eighty-one of the patients (36 boys and 45 girls) received no specific treatment and all cases terminated fatally. Twenty-one patients died during the first month of life, and 32 within the second month. All non-treated patients except 1 died during the first 13 months of life. Fifty-four patients (21 boys and 33 girls) were given specific treatment with sodium chloride combined with desoxycorticosterone and/or adrenocortical extract. Several of these patients were also treated with cortisone. Thirty-five patients (14 boys and 21 girls) were alive at the time when the reports were published. Twenty-five patients reported before 1953 were followed up in 1954. At the follow-up examination a total of 19 patients were alive; 5 boys and 5 girls were 5 years of age or older. In 12 patients, of whom 5 were 5 years of age or older, specific treatment of the electrolyte disorder was still required. The adrenals showed diffuse bilateral hyperplasia in 98 of 100 cases. The total weight of the adrenals ranged from 11 to 34 gm. in 64 patients who died before the age of 12 months. The histologic picture was variable.

Experience with long-term cortisone therapy in congenital adrenocortical hyperplasia; report of 4 cases.

CONGENITAL adrenocortical hyperplasia is a condition marked by a high degree ofandrogenicity. It is manifested as pseudohermaphrodism in the female and macrogenitosomiapraecox in the male. Characteristically, there is an increased urinary excretion of 17-ketosteroids. Treatment prior to 1950 was unsatisfactory; in fact, the intensity of the virilization was often such that many clinicians considered it preferable to transform some of the more severely masculinized genetic females into passable males than to condemn them to live as unhappy and inadequate females. The male prototype was usually better off, unlesshe had the misfortune to be the victim of an associated electrolyte disturbance, which attimes superimposes the addisonian complex upon the adrenogenital syndrome. Usually his only complaint, once maturity was attained, was his short, even at times dwarfed, stature due to premature epiphyseal closure, the result of early excessive androgenicity. Early in 1950, Sprague et al. (1) reported that the administration of cortisone in man reduced the urinary excretion of 17-ketosteroids. It followed inevitably that attempts would be made to utilize therapeutically this androgenic depressant activity of cortisone.