Abstract
Primary cortisol resistance (PCR) is a rare cause of hypercortisolism and usually does not produce clinical manifestations. This report describes primary cortisol resistance in a boy with isosexual precocity. A 67/12-yr-old boy had Tanner stage 3 pubic hair, accelerated linear growth, and advanced bone age (10 yr), but normal (for age) testes. There were no features of glucocorticoid excess. Serum androstenedione and dehydroepiandrosterone concentrations were 4.7 ± 0.3 nmol/L (mean ± SEM of four measurements; normal <1.2) and 13.5 nmol/L (single measurement; normal, 1.0-2.2), respectively. The serum testosterone concentration was 0.9 nmol/L (normal, d of [3H]dexamethasone binding to the glueocorticoid receptors of mononuclear leukocytes was increased (6.4 ± 0.8 nM; mean ± SEM of four determinations; normal, 1.4-3.4; P <0.001), but the binding capacity was normal. This patient with isosexual precocity has PCR, as indicated by functionally abnormal glucocorticoid receptors and hypercortisolism without other clinical or biochemical manifestations of Cushing's syndrome. Excessive adrenal stimulation by ACTH caused increased secretion of both cortisol and adrenal androgens, and the latter caused the clinical manifestations. PCR should be considered in other male children with isosexual precocity or female children with heterosexual precocity.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 503-507 |
| Number of pages | 5 |
| Journal | Journal of Clinical Endocrinology and Metabolism |
| Volume | 70 |
| Issue number | 2 |
| State | Published - 1990 |
| Externally published | Yes |
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ASJC Scopus subject areas
- Biochemistry
- Endocrinology, Diabetes and Metabolism
Cite this
Primary cortisol resistance presenting as isosexual precocity. / Malchoff, Carl D.; Javier, Emmanuel C.; Malchoff, Diana M.; Martin, Thomas; Rogol, Alan; Brandon, David; Loriaux, Donald (Lynn); Reardon, George E.
In: Journal of Clinical Endocrinology and Metabolism, Vol. 70, No. 2, 1990, p. 503-507.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Primary cortisol resistance presenting as isosexual precocity
AU - Malchoff, Carl D.
AU - Javier, Emmanuel C.
AU - Malchoff, Diana M.
AU - Martin, Thomas
AU - Rogol, Alan
AU - Brandon, David
AU - Loriaux, Donald (Lynn)
AU - Reardon, George E.
PY - 1990
Y1 - 1990
N2 - Primary cortisol resistance (PCR) is a rare cause of hypercortisolism and usually does not produce clinical manifestations. This report describes primary cortisol resistance in a boy with isosexual precocity. A 67/12-yr-old boy had Tanner stage 3 pubic hair, accelerated linear growth, and advanced bone age (10 yr), but normal (for age) testes. There were no features of glucocorticoid excess. Serum androstenedione and dehydroepiandrosterone concentrations were 4.7 ± 0.3 nmol/L (mean ± SEM of four measurements; normal <1.2) and 13.5 nmol/L (single measurement; normal, 1.0-2.2), respectively. The serum testosterone concentration was 0.9 nmol/L (normal, d of [3H]dexamethasone binding to the glueocorticoid receptors of mononuclear leukocytes was increased (6.4 ± 0.8 nM; mean ± SEM of four determinations; normal, 1.4-3.4; P <0.001), but the binding capacity was normal. This patient with isosexual precocity has PCR, as indicated by functionally abnormal glucocorticoid receptors and hypercortisolism without other clinical or biochemical manifestations of Cushing's syndrome. Excessive adrenal stimulation by ACTH caused increased secretion of both cortisol and adrenal androgens, and the latter caused the clinical manifestations. PCR should be considered in other male children with isosexual precocity or female children with heterosexual precocity.
AB - Primary cortisol resistance (PCR) is a rare cause of hypercortisolism and usually does not produce clinical manifestations. This report describes primary cortisol resistance in a boy with isosexual precocity. A 67/12-yr-old boy had Tanner stage 3 pubic hair, accelerated linear growth, and advanced bone age (10 yr), but normal (for age) testes. There were no features of glucocorticoid excess. Serum androstenedione and dehydroepiandrosterone concentrations were 4.7 ± 0.3 nmol/L (mean ± SEM of four measurements; normal <1.2) and 13.5 nmol/L (single measurement; normal, 1.0-2.2), respectively. The serum testosterone concentration was 0.9 nmol/L (normal, d of [3H]dexamethasone binding to the glueocorticoid receptors of mononuclear leukocytes was increased (6.4 ± 0.8 nM; mean ± SEM of four determinations; normal, 1.4-3.4; P <0.001), but the binding capacity was normal. This patient with isosexual precocity has PCR, as indicated by functionally abnormal glucocorticoid receptors and hypercortisolism without other clinical or biochemical manifestations of Cushing's syndrome. Excessive adrenal stimulation by ACTH caused increased secretion of both cortisol and adrenal androgens, and the latter caused the clinical manifestations. PCR should be considered in other male children with isosexual precocity or female children with heterosexual precocity.
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M3 - Article
VL - 70
SP - 503
EP - 507
JO - Journal of Clinical Endocrinology and Metabolism
JF - Journal of Clinical Endocrinology and Metabolism
SN - 0021-972X
IS - 2
ER -