Primary cortisol resistance presenting as isosexual precocity

Carl D. Malchoff, Emmanuel C. Javier, Diana M. Malchoff, Thomas Martin, Alan Rogol, David Brandon, Donald (Lynn) Loriaux, George E. Reardon

Research output: Contribution to journalArticle

49 Citations (Scopus)

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 languageEnglish (US)
Pages (from-to)503-507
Number of pages5
JournalJournal of Clinical Endocrinology and Metabolism
Volume70
Issue number2
StatePublished - 1990
Externally publishedYes

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Hydrocortisone
Cushing Syndrome
Mononuclear Leukocytes
Dehydroepiandrosterone
Androstenedione
Bone Development
Heterosexuality
Glucocorticoid Receptors
Serum
Scanning electron microscopy
Hair
Adrenocorticotropic Hormone
Dexamethasone
Glucocorticoids
Androgens
Testosterone
Testis
Bone
Primary cortisol resistance

ASJC Scopus subject areas

  • Biochemistry
  • Endocrinology, Diabetes and Metabolism

Cite this

Malchoff, C. D., Javier, E. C., Malchoff, D. M., Martin, T., Rogol, A., Brandon, D., ... Reardon, G. E. (1990). Primary cortisol resistance presenting as isosexual precocity. Journal of Clinical Endocrinology and Metabolism, 70(2), 503-507.

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 journalArticle

Malchoff, CD, Javier, EC, Malchoff, DM, Martin, T, Rogol, A, Brandon, D, Loriaux, DL & Reardon, GE 1990, 'Primary cortisol resistance presenting as isosexual precocity', Journal of Clinical Endocrinology and Metabolism, vol. 70, no. 2, pp. 503-507.
Malchoff CD, Javier EC, Malchoff DM, Martin T, Rogol A, Brandon D et al. Primary cortisol resistance presenting as isosexual precocity. Journal of Clinical Endocrinology and Metabolism. 1990;70(2):503-507.
Malchoff, Carl D. ; Javier, Emmanuel C. ; Malchoff, Diana M. ; Martin, Thomas ; Rogol, Alan ; Brandon, David ; Loriaux, Donald (Lynn) ; Reardon, George E. / Primary cortisol resistance presenting as isosexual precocity. In: Journal of Clinical Endocrinology and Metabolism. 1990 ; Vol. 70, No. 2. pp. 503-507.
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