17 alpha-hydroxylase deficiency pathophysiology

Jump to navigation Jump to search

Congenital adrenal hyperplasia main page

17 alpha-hydroxylase deficiency Microchapters


Patient Information


Historical Perspective




Differentiating 17 alpha-hydroxylase deficiency from other Diseases

Epidemiology and Demographics

Risk Factors


Natural History, Complications and Prognosis


History and Symptoms

Physical Examination

Laboratory Findings




Other Imaging Findings

Other Diagnostic Studies


Medical Therapy



Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

17 alpha-hydroxylase deficiency pathophysiology On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides


American Roentgen Ray Society Images of 17 alpha-hydroxylase deficiency pathophysiology

All Images
Echo & Ultrasound
CT Images

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on 17 alpha-hydroxylase deficiency pathophysiology

CDC on 17 alpha-hydroxylase deficiency pathophysiology

17 alpha-hydroxylase deficiency pathophysiology in the news

Blogs on 17 alpha-hydroxylase deficiency pathophysiology

Directions to Hospitals Treating Congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency

Risk calculators and risk factors for 17 alpha-hydroxylase deficiency pathophysiology

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mehrian Jafarizade, M.D [2]


17 alpha-hydroxylase deficiency is an uncommon form of congenital adrenal hyperplasia resulting from a defect in the gene CYP17A1, which encodes for the enzyme 17 alpha-hydroxylase and 17,20-lyase. 17 alpha-hydroxylase deficiency is transmitted in an autosomal recessive pattern. Mineralocorticoid excess and lack of androgens are two main features in this disease.


Adrenal steroid synthesis pathways in adrenal cortex and related enzymes [6]


Associated Conditions

Gross Pathology

Gross pathology findings in patients with 17 alpha-hydroxylase deficiency are:[8][9]

Adrenal gland, Cortex - Hyperplasia in a male rat from a chronic study. There are two adjacent foci of hyperplasia (H) in the zona fasciculata.[10]

Microscopic Pathology

In 17 alpha-hydroxylase deficiency microscopic findings may include:

Adrenal gland, Cortex - Hyperplasia in a female rat from a chronic study. There is a hyperplastic lesion (H) in which cortical cells are increased in number but are smaller in size than adjacent normal cortical cells (NC)[10]


  1. Kater CE, Biglieri EG (1994). "Disorders of steroid 17 alpha-hydroxylase deficiency". Endocrinol. Metab. Clin. North Am. 23 (2): 341–57. PMID 8070426.
  2. Heremans GF, Moolenaar AJ, van Gelderen HH (1976). "Female phenotype in a male child due to 17-alpha-hydroxylase deficiency". Arch. Dis. Child. 51 (9): 721–3. PMC 1546244. PMID 999330.
  3. Auchus RJ, Lee TC, Miller WL (1998). "Cytochrome b5 augments the 17,20-lyase activity of human P450c17 without direct electron transfer". J. Biol. Chem. 273 (6): 3158–65. PMID 9452426.
  4. Griffing GT, Wilson TE, Holbrook MM, Dale SL, Jackson TK, Ullrich I, Melby JC (1984). "Plasma and urinary 19-nor-deoxycorticosterone in 17 alpha-hydroxylase deficiency syndrome". J. Clin. Endocrinol. Metab. 59 (5): 1011–5. doi:10.1210/jcem-59-5-1011. PMID 6332824.
  5. Simsek E, Ozdemir I, Lin L, Achermann JC (2005). "Isolated 17,20-lyase (desmolase) deficiency in a 46,XX female presenting with delayed puberty". Fertil. Steril. 83 (5): 1548–51. doi:10.1016/j.fertnstert.2004.11.063. PMID 15866602.
  6. "File:Adrenal Steroids Pathways.svg - Wikimedia Commons".
  7. Hannah-Shmouni F, Chen W, Merke DP (2017). "Genetics of Congenital Adrenal Hyperplasia". Endocrinol. Metab. Clin. North Am. 46 (2): 435–458. doi:10.1016/j.ecl.2017.01.008. PMID 28476231.
  8. Congenital adrenal hyperplasia. Dr Henry Knipe and Dr M Venkatesh . Radiopaedia.org 2015.http://radiopaedia.org/articles/congenital-adrenal-hyperplasia
  9. Teixeira SR, Elias PC, Andrade MT, Melo AF, Elias Junior J (2014). "The role of imaging in congenital adrenal hyperplasia". Arq Bras Endocrinol Metabol. 58 (7): 701–8. PMID 25372578.
  10. 10.0 10.1 10.2 "Adrenal Gland - Hyperplasia - Nonneoplastic Lesion Atlas".