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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
- CAH is most common cause of disorder of sex development (DSD) in XX fetus (virilized XX)
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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References
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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
- CAH is most common cause of disorder of sex development (DSD) in XX fetus (virilized XX)
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
