21-hydroxylase deficiency history and symptoms: Difference between revisions

Jump to navigation Jump to search
(No difference)

Revision as of 18:52, 18 July 2017

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

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). In classical type, main symptoms can be sever hypotension due to adrenal crises, ambiguous genitalia in females, and no symptoms or larger phallus. In non-classic types, infants and male patients may have no symptoms and females may show virilization symptoms after puberty.

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]

21-OH deficiency type Common symptoms Less common symptoms
Infancy Female Male Female Male
Classic type

In salt wasting type

  • Vomiting
  • Weight loss
  • Dehydration in a baby’s first few weeks of life
  • Ambiguous genitalia
  • Clitoral enlargement
  • labial fusion
  • Deep voice
  • Greater aggressive tendencies than unaffected healthy women
  • Early puberty
  • Adult short stature
  • Male-typical sexual behavior in girls and cross-gender role behavior
  • 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)
  • Testicular masses due to testicular adrenal rest tumors
  • Infertility due to seminiferous tubule obstruction, gonadal dysfunction as a result of testicular adrenal rest tumors, these tumors caused by high level of ACTH
Non-classic type
  • No symptoms
  • Premature pubarche.
  • Advance bone age
  • Medication resistant cystic acne
  • Accelerated growth with tall stature as a child in prepubertal period
  • Hirsutism
  • Oligomenorrhea
  • Acne
  • Hirsutism, acne and menstrual irregularity in young women
  • Early pubarche or sexual precocity in school age children
  • Mild subfertility due to hyperandrogenemia and anovulatory cycles (fertility rate depends the enzyme amount).
  • No symptoms
  • Premature pubarche.
  • Advance bone age
  • Medication resistant cystic acne
  • Accelerated growth with tall stature as a child
  • Clitoromegaly
  • Infertility
  • Alopecia
  • Primary amenorrhea
  • Acne
  • Infertility

 

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. van der Kamp HJ, Wit JM (2004). "Neonatal screening for congenital adrenal hyperplasia". Eur. J. Endocrinol. 151 Suppl 3: U71–5. PMID 15554889.
  7. White PC, Speiser PW (2000). "Congenital adrenal hyperplasia due to 21-hydroxylase deficiency". Endocr. Rev. 21 (3): 245–91. doi:10.1210/edrv.21.3.0398. PMID 10857554.
  8. Zucker KJ, Bradley SJ, Oliver G, Blake J, Fleming S, Hood J (1996). "Psychosexual development of women with congenital adrenal hyperplasia". Horm Behav. 30 (4): 300–18. doi:10.1006/hbeh.1996.0038. PMID 9047259.