Full Report

Format

Full Report
Summary (Text)
Summary (XML)

Send to:

Choose Destination

File
Clipboard
Collections

Hyperandrogenism due to cortisone reductase deficiency

MedGen UID:: 1372270
•Concept ID:: C4329210
•: Disease or Syndrome

Synonyms:	11-beta-hydroxysteroid dehydrogenase deficiency type 1; 11-Beta-Hydroxysteroid Dehydrogenase Type 1 Deficiency
SNOMED CT:	Hyperandrogenism due to cortisone reductase deficiency (783696009); 11-beta-hydroxysteroid dehydrogenase deficiency type 1 (783696009)

Definition

A rare genetic endocrine disease with characteristics of a defect in conversion of cortisone to active cortisol, resulting in ACTH-mediated excessive androgen release from adrenal glands. Premature adrenarche is typical with precocious pseudopuberty, proportionate tall stature and accelerated bone maturation in males and hirsutism, oligoamenorrhoea, central obesity and infertility in females. Imaging studies may indicate adrenal hyperplasia. [from SNOMEDCT_US]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVHyperandrogenism due to cortisone reductase deficiency

Pathological Conditions, Signs and Symptoms
- Pathological process
  - Disease
    - Disorder by Site
      - Disorder of endocrine system
        Non-Neoplastic Endocrine Disorder
        Hyperandrogenism due to cortisone reductase deficiency

Recent clinical studies

Etiology

Mutations of the hexose-6-phosphate dehydrogenase gene rarely cause hyperandrogenemic polycystic ovary syndrome.

Qin K, Rosenfield RL
Steroids 2011 Jan;76(1-2):135-9. Epub 2010 Nov 2 doi: 10.1016/j.steroids.2010.10.001. PMID: 21050867 Free PMC Article

Apparent cortisone reductase deficiency: a unique form of hypercortisolism.

Phillipov G, Palermo M, Shackleton CH
J Clin Endocrinol Metab 1996 Nov;81(11):3855-60. doi: 10.1210/jcem.81.11.8923828. PMID: 8923828

See all (2)

Diagnosis

Novel H6PDH mutations in two girls with premature adrenarche: 'apparent' and 'true' CRD can be differentiated by urinary steroid profiling.

Lavery GG, Idkowiak J, Sherlock M, Bujalska I, Ride JP, Saqib K, Hartmann MF, Hughes B, Wudy SA, De Schepper J, Arlt W, Krone N, Shackleton CH, Walker EA, Stewart PM
Eur J Endocrinol 2013 Feb;168(2):K19-26. Epub 2013 Feb 1 doi: 10.1530/EJE-12-0628. PMID: 23132696 Free PMC Article

11beta-hydroxysteroid dehydrogenase type 1 deficiency ('apparent cortisone reductase deficiency') in a 6-year-old boy.

Małunowicz EM, Romer TE, Urban M, Bossowski A
Horm Res 2003;59(4):205-10. doi: 10.1159/000069326. PMID: 12649576

Apparent cortisone reductase deficiency: a rare cause of hyperandrogenemia and hypercortisolism.

Biason-Lauber A, Suter SL, Shackleton CH, Zachmann M
Horm Res 2000;53(5):260-6. doi: 10.1159/000023577. PMID: 11150889

See all (3)

Therapy

11beta-hydroxysteroid dehydrogenase type 1 deficiency ('apparent cortisone reductase deficiency') in a 6-year-old boy.

Małunowicz EM, Romer TE, Urban M, Bossowski A
Horm Res 2003;59(4):205-10. doi: 10.1159/000069326. PMID: 12649576

See all (1)

Prognosis

Genetic variation in 11beta-hydroxysteroid dehydrogenase type 1 predicts adrenal hyperandrogenism among lean women with polycystic ovary syndrome.

Gambineri A, Vicennati V, Genghini S, Tomassoni F, Pagotto U, Pasquali R, Walker BR
J Clin Endocrinol Metab 2006 Jun;91(6):2295-302. Epub 2006 Mar 21 doi: 10.1210/jc.2005-2222. PMID: 16551740

See all (1)

Clinical prediction guides