CAH is most common cause of disorder of sex development (DSD) in XX fetus (virilized XX)
Autosomal recessive disorder of cortisol production
Virilizing type &/or salt-wasting type
IMAGING
Ultrasonographic Findings
MR Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Genetics and Other Causes
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Reporting Tips
Selected References
Smitthimedhin A et al: Normal size of the fetal adrenal gland on prenatal magnetic resonance imaging. Pediatr Radiol. 50(6):840-7, 2020
Fuchs F et al: Prenatal imaging of genital defects: clinical spectrum and predictive factors for severe forms. BJU Int. 124(5):876-82, 2019
Simpson JL et al: Prenatal genetic testing and treatment for congenital adrenal hyperplasia. Fertil Steril. 111(1):21-3, 2019
El-Maouche D et al: Congenital adrenal hyperplasia. Lancet. 390(10108):2194-210, 2017
Heland S et al: Preventing female virilisation in congenital adrenal hyperplasia: the controversial role of antenatal dexamethasone. Aust N Z J Obstet Gynaecol. 56(3):225-32, 2016
Khattab A et al: Noninvasive prenatal diagnosis of congenital adrenal hyperplasia. Endocr Dev. 30:37-41, 2016
Odenwald B et al: Children with classic congenital adrenal hyperplasia experience salt loss and hypoglycemia: evaluation of adrenal crises during the first 6 years of life. Eur J Endocrinol. 174(2):177-86, 2016
Engberg H et al: Congenital adrenal hyperplasia and risk for psychiatric disorders in girls and women born between 1915 and 2010: a total population study. Psychoneuroendocrinology. 60:195-205, 2015
Gorduza D et al: Late prenatal dexamethasone and phenotype variations in 46,XX CAH: concerns about current protocols and benefits for surgical procedures. J Pediatr Urol. 10(5):941-7, 2014
Maki E et al: Imaging and differential diagnosis of suprarenal masses in the fetus. J Ultrasound Med. 33(5):895-904, 2014
Reisch N et al: Testicular adrenal rest tumors develop independently of long-term disease control: a longitudinal analysis of 50 adult men with congenital adrenal hyperplasia due to classic 21-hydroxylase deficiency. J Clin Endocrinol Metab. 98(11):E1820-6, 2013
Shorakae S et al: Congenital adrenal hyperplasia and pregnancy. BMJ Case Rep. 2013, 2013
van Vuuren SH et al: Size and volume charts of fetal kidney, renal pelvis and adrenal gland. Ultrasound Obstet Gynecol. 40(6):659-64, 2012
Related Anatomy
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Related Differential Diagnoses
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References
Tables
Tables
KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Clinical Issues
Diagnostic Checklist
TERMINOLOGY
Abbreviations
Congenital adrenal hyperplasia (CAH)
Synonyms
Clitoral hypertrophy = clitoromegaly
Definitions
CAH is most common cause of disorder of sex development (DSD) in XX fetus (virilized XX)
Autosomal recessive disorder of cortisol production
Virilizing type &/or salt-wasting type
IMAGING
Ultrasonographic Findings
MR Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Genetics and Other Causes
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Reporting Tips
Selected References
Smitthimedhin A et al: Normal size of the fetal adrenal gland on prenatal magnetic resonance imaging. Pediatr Radiol. 50(6):840-7, 2020
Fuchs F et al: Prenatal imaging of genital defects: clinical spectrum and predictive factors for severe forms. BJU Int. 124(5):876-82, 2019
Simpson JL et al: Prenatal genetic testing and treatment for congenital adrenal hyperplasia. Fertil Steril. 111(1):21-3, 2019
El-Maouche D et al: Congenital adrenal hyperplasia. Lancet. 390(10108):2194-210, 2017
Heland S et al: Preventing female virilisation in congenital adrenal hyperplasia: the controversial role of antenatal dexamethasone. Aust N Z J Obstet Gynaecol. 56(3):225-32, 2016
Khattab A et al: Noninvasive prenatal diagnosis of congenital adrenal hyperplasia. Endocr Dev. 30:37-41, 2016
Odenwald B et al: Children with classic congenital adrenal hyperplasia experience salt loss and hypoglycemia: evaluation of adrenal crises during the first 6 years of life. Eur J Endocrinol. 174(2):177-86, 2016
Engberg H et al: Congenital adrenal hyperplasia and risk for psychiatric disorders in girls and women born between 1915 and 2010: a total population study. Psychoneuroendocrinology. 60:195-205, 2015
Gorduza D et al: Late prenatal dexamethasone and phenotype variations in 46,XX CAH: concerns about current protocols and benefits for surgical procedures. J Pediatr Urol. 10(5):941-7, 2014
Maki E et al: Imaging and differential diagnosis of suprarenal masses in the fetus. J Ultrasound Med. 33(5):895-904, 2014
Reisch N et al: Testicular adrenal rest tumors develop independently of long-term disease control: a longitudinal analysis of 50 adult men with congenital adrenal hyperplasia due to classic 21-hydroxylase deficiency. J Clin Endocrinol Metab. 98(11):E1820-6, 2013
Shorakae S et al: Congenital adrenal hyperplasia and pregnancy. BMJ Case Rep. 2013, 2013
van Vuuren SH et al: Size and volume charts of fetal kidney, renal pelvis and adrenal gland. Ultrasound Obstet Gynecol. 40(6):659-64, 2012
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