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Results for “ADRENOGENITAL SYNDROME”

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At least 109 records · Page 6Linked to original sources
PubMed1981

HLA haplotypes in children with adrenogenital syndrome and their parents.

HLA-A and B antigen typing was carried out by the standard NIH lymphocytotoxicity test in children with adrenogenital syndrome (AGS) from 11 families, further in 3 healthy siblings and 20 obligatory gene carrier parents. Of the children 7 had the salt-losing form. The AGS homozygote group was examined for the geno- and haplotypes of the HLA antigen and the heterozygote group for HLA antigen genotypes. Two AGS-affected children of the same family proved to be HLA-identical, while in other families the haplotypes of the healthy siblings were different from those of the affected children. As compared with the data of 222 healthy blood donors, the antigens of the HLA-A and B loci in the homo- and heterozygote groups showed no significant difference.

Adrenal Hyperplasia, Congenital↗
PubMed1978

Adrenogenital syndrome: unusual presentation in an adult.

A case of bilateral testicular tumors thought secondary to hyperplastic adrenal rest tissue in an adult with the adrenogenital syndrome is presented. The appropriate endocrinologic diagnosis of 21-hydroxylase deficiency was made by extensive hormonal assay of serum and urine. Pathologic investigation suggested Leydig cell hyperplasia or tumor, but clinical and laboratory response to steroid therapy indicated elaboration of androgens from adrenal or adrenal rest sources. We believe initial medical therapy is justified in these particular cases.

Adrenal Hyperplasia, Congenital↗
PubMed1980

[Combination of adrenogenital syndrome with true hermaphroditism].

A combination of the following malformations in a boy of 6 months is described: a salt-losing form of the adrenogenital syndrome, true hermaphroditism (external genitalia of the male type, the Fallopian and tissue of the embryonal ovary found in the abdominal cavity), left-side uretherohydronephrosis and microgyria of the right parietooccipital area of the brain.

Abnormalities, Multiple↗
PubMed1990

[A case of adrenal myelolipoma associated with adrenogenital syndrome].

Myelolipoma is a benign non-functioning tumor, and the number of documented cases is increasing in recent years. We report a case of adrenal myelolipoma associated with adrenogenital syndrome. A 65-year-old woman presented with a complaint of abdominal discomfort. CT showed a mass with abundant fatty density in the left adrenal gland suggesting myelolipoma. She was small and thin. External genitalia had a female appearance, but showed type III abnormality in Prader's classification with clitoral hypertrophy. She had a history of primary amenorrhea. Endocrinological examination revealed marked increase in the 17 alpha-hydroxyprogesterone (or 17-OHP) and pregnanetriol levels. On the basis of clinical features and laboratory values, simple virilizing type congenital adrenal hyperplasia due to 21-hydroxylase deficiency was made. The left adrenal tumor was surgically removed and histologically proved to be myelolipoma. Tumor-uninvolved adrenal area adjacent to myelolipoma showed adrenocortical hyperplasia. To our knowledge, this is the first reported case of adrenal myelolipoma to be associated with congenital adrenal hyperplasia, due to 21-hydroxylase deficiency in Japan. The etiology of myelolipoma remains to be not clarified but our case suggests involvement of endocrine disorder in the development of this tumor.

Adrenal Gland Neoplasms↗