21-hydroxylase deficiency history and symptoms

Jump to navigation Jump to search

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency Microchapters

Home

Patient Information

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Congenital adrenal hyperplasia due to 21-hydroxylase deficiency from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

CT

MRI

Ultrasound

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

21-hydroxylase deficiency history and symptoms On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of 21-hydroxylase deficiency history and symptoms

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on 21-hydroxylase deficiency history and symptoms

CDC on 21-hydroxylase deficiency history and symptoms

21-hydroxylase deficiency history and symptoms in the news

Blogs on 21-hydroxylase deficiency history and symptoms

Directions to Hospitals Treating Congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Risk calculators and risk factors for 21-hydroxylase deficiency history and symptoms

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

Overview

Classic CAH salt-wasting CAH Baby girls with ambiguous genitalia with life-threatening cases of vomiting, weight loss and dehydration in a baby’s first few weeks of life or simple virilizing CAH but girls will have ambiguous genitalia. baby boys may have enlarged penises. nonclassic or late onset CAH Patients don't show any signs in early life but show  premature pubarche, acne, hirsutism.

History and Symptoms

Symptom of 21-hydroxylase deficiency ranges from severe to mild or asymptomatic forms, depending on the degree of 21-hydroxylase enzyme deficiency. There are three main clinical phenotypes: classic salt-wasting, classic non-salt-wasting (simple virilizing), and non-classic (late-onset):[1][2][3][4][5][6][7][8][9]

21-OH deficiency type Common symptoms Less common symptoms
Child Female Male Child Female Male
Classical type
  • Ambiguous genitalia
  • Clitoral enlargement
  • Labial fusion
  • Vomiting, weight loss and dehydration in a baby’s first few weeks of life in salt wasting type
  • Early puberty
  • Adult short stature
  • Male-typical sexual behavior in girls and cross-gender role behavior
  • Ambiguous genitalia
  • Clitoral enlargement
  • labial fusion
  • Deep voice
  • Greater aggressive tendencies than unaffected healthy women
  • Decreased fertility due to hyperandrogenemia and anovulatory cycles (fertility rate depends the enzyme amount).
  • Normal appearing at birth(mostly)
  • Hyperpigmentation of the scrotum
  • Enlarged phallus
  • Deep voice
  • Muscle growth
  • Early virilization at two to four years of age with (pubic hair, growth spurt, adult body odor).
  • Cognitive function disturbance such as IQ impairment
  • Male-typical cognitive pattern (better performance on spatial tasks, worse performance on verbal tasks)
  • Adrenal rest tumors due to sustained elevations in ACTH
  • Testicular adrenal rest tumors
Late onset disease
  • Hirsutism, acne and menstrual irregularity in young women
  • Early pubarche or sexual precocity in school age children
  • No symptoms
  • Short stature
  • Decreased fertility due to hyperandrogenemia and anovulatory cycles(fertility rate depends the enzyme amount).

 


References

  1. Eugster EA, Dimeglio LA, Wright JC, Freidenberg GR, Seshadri R, Pescovitz OH (2001). "Height outcome in congenital adrenal hyperplasia caused by 21-hydroxylase deficiency: a meta-analysis". J Pediatr. 138 (1): 26–32. doi:10.1067/mpd.2001.110527. PMID 11148508.
  2. Mathews GA, Fane BA, Conway GS, Brook CG, Hines M (2009). "Personality and congenital adrenal hyperplasia: possible effects of prenatal androgen exposure". Horm Behav. 55 (2): 285–91. doi:10.1016/j.yhbeh.2008.11.007. PMC 3296092. PMID 19100266.
  3. Mulaikal RM, Migeon CJ, Rock JA (1987). "Fertility rates in female patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency". N Engl J Med. 316 (4): 178–82. doi:10.1056/NEJM198701223160402. PMID 3491959.
  4. Stikkelbroeck NM, Hermus AR, Braat DD, Otten BJ (2003). "Fertility in women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency". Obstet Gynecol Surv. 58 (4): 275–84. doi:10.1097/01.OGX.0000062966.93819.5B. PMID 12665708.
  5. Hagenfeldt K, Janson PO, Holmdahl G, Falhammar H, Filipsson H, Frisén L; et al. (2008). "Fertility and pregnancy outcome in women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency". Hum Reprod. 23 (7): 1607–13. doi:10.1093/humrep/den118. PMID 18420648.
  6. Stikkelbroeck NM, Suliman HM, Otten BJ, Hermus AR, Blickman JG, Jager GJ (2003). "Testicular adrenal rest tumours in postpubertal males with congenital adrenal hyperplasia: sonographic and MR features". Eur Radiol. 13 (7): 1597–603. doi:10.1007/s00330-002-1786-3. PMID 12835972.
  7. Stikkelbroeck NM, Hermus AR, Suliman HM, Jager GJ, Otten BJ (2004). "Asymptomatic testicular adrenal rest tumours in adolescent and adult males with congenital adrenal hyperplasia: basal and follow-up investigation after 2.6 years". J Pediatr Endocrinol Metab. 17 (4): 645–53. PMID 15198296.
  8. Stikkelbroeck NM, Suliman HM, Otten BJ, Hermus AR, Blickman JG, Jager GJ (2003). "Testicular adrenal rest tumours in postpubertal males with congenital adrenal hyperplasia: sonographic and MR features". Eur Radiol. 13 (7): 1597–603. doi:10.1007/s00330-002-1786-3. PMID 12835972.
  9. Nordenskjöld A, Holmdahl G, Frisén L, Falhammar H, Filipsson H, Thorén M; et al. (2008). "Type of mutation and surgical procedure affect long-term quality of life for women with congenital adrenal hyperplasia". J Clin Endocrinol Metab. 93 (2): 380–6. doi:10.1210/jc.2007-0556. PMID 18029470.