Adrenocortical Tumor in a Patient with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

An adrenal cortical tissue tumor developed in a patient with poorly controlled salt-losing congenital adrenal hyperplasia. A 16-year-old girl became progressively virilized from 13 to 16 years of age. Base line serum progesterone, 17-hydroxyprogesterone, and testosterone levels were high and there was a diurnal pattern of the hormones. Initially elevated urinary 17-ketosteroid and serum steroid levels were decreased by high dose dexamethasone therapy, and at laparotomy an adenoma was found in the cortex of the hyperplastic left adrenal gland. It is inferred that persistent adrenocorticotropic hormone stimulation may result in neoplastic transformation of hyperplastic adrenal cortical tissue in patients with congenital adrenal hyperplasia.

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Gonadal dysfunction in adult men with congenital adrenal hyperplasia

Acta Endocrinologica ◽

10.1530/acta.0.0950185 ◽

1980 ◽

Vol 95 (2) ◽

pp. 185-193 ◽

Cited By ~ 19

Author(s):

G. W. Moore ◽

A. Lacroix ◽

D. Rabin ◽

T. J. McKenna

Keyword(s):

Congenital Adrenal Hyperplasia ◽

Adult Males ◽

Adrenal Hyperplasia ◽

Adrenal Androgen ◽

Hydroxylase Deficiency ◽

Cell Hyperplasia ◽

Gonadal Dysfunction ◽

Dexamethasone Therapy ◽

Adrenal Rest ◽

21 Hydroxylase Deficiency

Abstract. Two adult males are described with congenital adrenal hyperplasia (21-hydroxylase deficiency). Patient 1 was receiving therapy with cortisone acetate and presented with clinical features of glucocorticoid excess and uncontrolled adrenal androgen activity. It was established that the short-acting steroid which the patient was receiving was cleared so rapidly that endogenous ACTH secretion was not inhibited. Patient 2 presented with enlarged and painful testes in association with poor compliance with corticosteroid therapy. The histologic picture of the testis was compatible with 'Leydig cell hyperplasia'. However, successful response to dexamethasone therapy suggests that the testes harboured an adrenal rest. These observations highlight the need for careful follow-up and treatment of adult male patients with congenital adrenal hyperplasia.

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Neonatal Salt Loss in the Hypertensive Form of Congenital Adrenal Hyperplasia

PEDIATRICS ◽

10.1542/peds.65.4.777 ◽

1980 ◽

Vol 65 (4) ◽

pp. 777-781

Author(s):

J. H. Holcombe ◽

B. S. Keenan ◽

B. L. Nichols ◽

R. T. Kirkland ◽

G. W. Clayton

Keyword(s):

Congenital Adrenal Hyperplasia ◽

Severe Hypertension ◽

Ambiguous Genitalia ◽

Elevated Plasma ◽

Adrenal Hyperplasia ◽

Hydroxylase Deficiency ◽

Newborn Period ◽

Dexamethasone Therapy ◽

21 Hydroxylase Deficiency ◽

Low Cortisol

The 11β-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 11β-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 11β- and 21-hydroxylase deficiency forms of congenital adrenal hyperplasia.

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