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KEY FACTS
Terminology
Imaging
Pathology
Clinical Issues
TERMINOLOGY
Abbreviations
- Congenital adrenal hyperplasia (CAH), 21-hydroxylase deficiency (21-OHD)
Definitions
- Inherited disorder of cortisol (± aldosterone) biosynthesis, which leads to hypertrophy of adrenal glands
- 2 types of CAH: Classic & nonclassic based on presentation
- Classic CAH: Presents as neonate with salt-wasting or virilization
- Nonclassic CAH: Presents as child with premature puberty or in adolescence/adulthood with hirsutism, irregular menses, chronic anovulation, acne, or infertility
- Classification of classic & nonclassic is artificial as disease severity is continuum determined by enzyme activity
IMAGING
General Features
Ultrasonographic Findings
Radiographic Findings
Fluoroscopic Findings
CT Findings
MR Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Gross Pathologic & Surgical Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Selected References
- Hanafy AK et al: Imaging features of adrenal gland masses in the pediatric population. Abdom Radiol (NY). 45(4):964-81, 2020
- Goncalves LF et al: Prenatal and postnatal imaging techniques in the evaluation of disorders of sex development. Semin Pediatr Surg. 28(5):150839, 2019
- Harris RM et al: Ethical issues with early genitoplasty in children with disorders of sex development. Curr Opin Endocrinol Diabetes Obes. 26(1):49-53, 2019
- Ma L et al: Sonographic features of the testicular adrenal rests tumors in patients with congenital adrenal hyperplasia: a single-center experience and literature review. Orphanet J Rare Dis. 14(1):242, 2019
- Podgórski R et al: Congenital adrenal hyperplasia: clinical symptoms and diagnostic methods. Acta Biochim Pol. 65(1):25-33, 2018
- White PC: Update on diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Curr Opin Endocrinol Diabetes Obes. 25(3):178-84, 2018
- Sargar KM et al: Imaging of nonmalignant adrenal lesions in children. Radiographics. 37(6):1648-64, 2017
- Witchel SF: Congenital adrenal hyperplasia. J Pediatr Adolesc Gynecol. 30(5):520-34, 2017
- Teixeira SR et al: The role of imaging in congenital adrenal hyperplasia. Arq Bras Endocrinol Metabol. 58(7):701-8, 2014
- Chung EM et al: From the radiologic pathology archives: precocious puberty: radiologic-pathologic correlation. Radiographics. 32(7):2071-99, 2012
- Hernanz-Schulman M et al: Sonographic findings in infants with congenital adrenal hyperplasia. Pediatr Radiol. 32(2):130-7, 2002
- Avni EF et al: Sonographic demonstration of congenital adrenal hyperplasia in the neonate: the cerebriform pattern. Pediatr Radiol. 23(2):88-90, 1993
- Harinarayana CV et al: Computed tomography in untreated congenital adrenal hyperplasia. Pediatr Radiol. 21(2):103-5, 1991
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References
Tables
Tables
KEY FACTS
Terminology
Imaging
Pathology
Clinical Issues
TERMINOLOGY
Abbreviations
- Congenital adrenal hyperplasia (CAH), 21-hydroxylase deficiency (21-OHD)
Definitions
- Inherited disorder of cortisol (± aldosterone) biosynthesis, which leads to hypertrophy of adrenal glands
- 2 types of CAH: Classic & nonclassic based on presentation
- Classic CAH: Presents as neonate with salt-wasting or virilization
- Nonclassic CAH: Presents as child with premature puberty or in adolescence/adulthood with hirsutism, irregular menses, chronic anovulation, acne, or infertility
- Classification of classic & nonclassic is artificial as disease severity is continuum determined by enzyme activity
IMAGING
General Features
Ultrasonographic Findings
Radiographic Findings
Fluoroscopic Findings
CT Findings
MR Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Gross Pathologic & Surgical Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Selected References
- Hanafy AK et al: Imaging features of adrenal gland masses in the pediatric population. Abdom Radiol (NY). 45(4):964-81, 2020
- Goncalves LF et al: Prenatal and postnatal imaging techniques in the evaluation of disorders of sex development. Semin Pediatr Surg. 28(5):150839, 2019
- Harris RM et al: Ethical issues with early genitoplasty in children with disorders of sex development. Curr Opin Endocrinol Diabetes Obes. 26(1):49-53, 2019
- Ma L et al: Sonographic features of the testicular adrenal rests tumors in patients with congenital adrenal hyperplasia: a single-center experience and literature review. Orphanet J Rare Dis. 14(1):242, 2019
- Podgórski R et al: Congenital adrenal hyperplasia: clinical symptoms and diagnostic methods. Acta Biochim Pol. 65(1):25-33, 2018
- White PC: Update on diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Curr Opin Endocrinol Diabetes Obes. 25(3):178-84, 2018
- Sargar KM et al: Imaging of nonmalignant adrenal lesions in children. Radiographics. 37(6):1648-64, 2017
- Witchel SF: Congenital adrenal hyperplasia. J Pediatr Adolesc Gynecol. 30(5):520-34, 2017
- Teixeira SR et al: The role of imaging in congenital adrenal hyperplasia. Arq Bras Endocrinol Metabol. 58(7):701-8, 2014
- Chung EM et al: From the radiologic pathology archives: precocious puberty: radiologic-pathologic correlation. Radiographics. 32(7):2071-99, 2012
- Hernanz-Schulman M et al: Sonographic findings in infants with congenital adrenal hyperplasia. Pediatr Radiol. 32(2):130-7, 2002
- Avni EF et al: Sonographic demonstration of congenital adrenal hyperplasia in the neonate: the cerebriform pattern. Pediatr Radiol. 23(2):88-90, 1993
- Harinarayana CV et al: Computed tomography in untreated congenital adrenal hyperplasia. Pediatr Radiol. 21(2):103-5, 1991
