Testicular adrenal rest tumours in salt wasting congenital adrenal hyperplasia (in vivo and in vitro studies)

J Steroid Biochem Mol Biol. 2005 Jan;93(1):67-72. doi: 10.1016/j.jsbmb.2004.10.023. Epub 2005 Jan 26.

Abstract

We describe the case of a 20-year-old patient with salt-wasting congenital adrenal hyperplasia (CAH) related to 21-hydroxylase deficiency. Bilateral craggy testicular tumours were found, requiring histological evaluation. Prior to the surgical procedure, the patient was treated with dexamethasone (he presented cortisol deficiency) and was stimulated with ACTH. High levels of 11beta-OH steroids measured in the gonadal vein, compared with peripheral blood samples suggested the presence of adrenal rests. Incubation of the tumours (which could not be differentiated histologically, from Leydig tissue), with radioactive steroid precursors was carried out. The results revealed the testicular tumours were of adrenal tissue origin, associated with 21-hydroxylase deficiency. The patient's non-compliance to glucocorticoid treatment was the main cause of his hypogonadotropic hypogonadism.

Publication types

  • Case Reports

MeSH terms

  • Adrenal Hyperplasia, Congenital / complications*
  • Adrenal Rest Tumor / diagnosis
  • Adrenal Rest Tumor / diagnostic imaging
  • Adrenal Rest Tumor / drug therapy
  • Adrenal Rest Tumor / etiology*
  • Adrenal Rest Tumor / pathology
  • Adrenal Rest Tumor / surgery
  • Adrenocorticotropic Hormone / pharmacology
  • Adult
  • Dehydroepiandrosterone Sulfate / blood
  • Dexamethasone / therapeutic use
  • Diagnosis, Differential
  • Fludrocortisone / therapeutic use
  • Follicle Stimulating Hormone / blood
  • Follow-Up Studies
  • Glucocorticoids / therapeutic use
  • Gonadotropin-Releasing Hormone / metabolism
  • Humans
  • Hydrocortisone / deficiency
  • Hypogonadism / etiology
  • Inhibins / blood
  • Leydig Cell Tumor / diagnosis
  • Luteinizing Hormone / blood
  • Male
  • Prolactin / blood
  • Renin / blood
  • Steroid 21-Hydroxylase / metabolism*
  • Testicular Neoplasms / diagnosis
  • Testicular Neoplasms / diagnostic imaging
  • Testicular Neoplasms / drug therapy
  • Testicular Neoplasms / etiology*
  • Testicular Neoplasms / pathology
  • Testicular Neoplasms / surgery
  • Treatment Refusal
  • Ultrasonography

Substances

  • Glucocorticoids
  • inhibin B
  • Gonadotropin-Releasing Hormone
  • Inhibins
  • Dehydroepiandrosterone Sulfate
  • Dexamethasone
  • Adrenocorticotropic Hormone
  • Prolactin
  • Luteinizing Hormone
  • Follicle Stimulating Hormone
  • Steroid 21-Hydroxylase
  • Renin
  • Fludrocortisone
  • Hydrocortisone