21-hydroxylase deficiency screening

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 screening 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 screening

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 screening

CDC on 21-hydroxylase deficiency screening

21-hydroxylase deficiency screening in the news

Blogs on 21-hydroxylase deficiency screening

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

Risk calculators and risk factors for 21-hydroxylase deficiency screening

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

Overview

According to Endocrine Society Clinical Practice Guideline, screening for 21-hydroxylase deficiency by measuring 17a-hydroxyprogesterone is recommended for all newborns. The Endocrine Society's Clinical Practice Guideline recommends that genetic counseling be provided for individuals who are planning to conceive, and there is a family history of 21-hydroxylase deficiency.

Screening

According to Endocrine Society Clinical Practice Guideline, screening for 21-hydroxylase deficiency by measuring 17a-hydroxyprogesterone is recommended for all newborns.

  • Blood sample on filter paper should be obtained from heel puncture preferably between two and four days after birth.
  • Screening programs should be done using a two-tier protocol (initial immunoassay with further evaluation of positive tests by liquid chromatography/tandem mass spectrometry.
  • Most affected neonates have concentrations greater than 3500 ng/dL (105 nmol/L).[1][2]

Genetic counseling

The Endocrine Society's Clinical Practice Guideline recommends that genetic counseling be provided for individuals who are planning to conceive, and there is a family history of 21-hydroxylase deficiency.[2]


References

  1. Gonzalez RR, Mäentausta O, Solyom J, Vihko R (1990). "Direct solid-phase time-resolved fluoroimmunoassay of 17 alpha-hydroxyprogesterone in serum and dried blood spots on filter paper". Clin. Chem. 36 (9): 1667–72. PMID 2208708.
  2. 2.0 2.1 Speiser PW, Azziz R, Baskin LS, Ghizzoni L, Hensle TW, Merke DP, Meyer-Bahlburg HF, Miller WL, Montori VM, Oberfield SE, Ritzen M, White PC (2010). "Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline". J. Clin. Endocrinol. Metab. 95 (9): 4133–60. doi:10.1210/jc.2009-2631. PMC 2936060. PMID 20823466.

Template:WikiDoc Sources