CONGENITAL ADRENAL HYPERPLASIA DUE TO 21-HYDROXYLASE DEFICIENCY PRESENTING AS ADRENAL INCIDENTALOMA: A SYSTEMATIC REVIEW AND META-ANALYSIS

2016 ◽  
Vol 22 (6) ◽  
pp. 736-752 ◽  
Author(s):  
Henrik Falhammar ◽  
David J. Torpy
Keyword(s):  
Systematic Review ◽  
Congenital Adrenal Hyperplasia ◽  
Meta Analysis ◽  
Adrenal Incidentaloma ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
21 Hydroxylase Deficiency

Height outcome in congenital adrenal hyperplasia caused by 21-hydroxylase deficiency: A meta-analysis

2001 ◽  
Vol 138 (1) ◽  
pp. 26-32 ◽  
Author(s):  
Erica A. Eugster ◽  
Linda A. DiMeglio ◽  
James C. Wright ◽  
Gary R. Freidenberg ◽  
Roopa Seshadri ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Meta Analysis ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
21 Hydroxylase Deficiency

scholarly journals Large Bilateral Adrenal Myelolipomas in the Setting of Congenital Adrenal Hyperplasia

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A138-A139
Author(s):  
Karolina E Anderson ◽  
Carmen Solorzano ◽  
Shichun Bao
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Adrenal Incidentaloma ◽  
Adrenal Tumors ◽  
Adrenal Hyperplasia ◽  
Hematopoietic Tissue ◽  
Hydroxylase Deficiency ◽  
Retroperitoneal Hemorrhage ◽  
The Right ◽  
The Masses ◽  
21 Hydroxylase Deficiency

Abstract Adrenal myelolipomas (AMLs) are rare benign adrenal tumors containing adipose and hematopoietic tissue, with a reported incidence of 0.08 to 0.4% on autopsy. AMLs are the second most common primary adrenal incidentaloma. Congenital adrenal hyperplasia (CAH) is associated with 10% of analyzed AML cases, half of which are bilateral in CAH patients. This is a 40-year old male with CAH diagnosed shortly after birth, due to 21-hydroxylase deficiency. He was doing well on a maintenance dose of hydrocortisone 20mg PO qAM and 10mg PO qPM and fludrocortisone 0.2mg PO daily until two years ago when he was incidentally found to have large bilateral AMLs while undergoing abdominal MRI and CT scans. These measured 6.6x3.6x7.7cm on the right (R) and 12.3x8.4x6.8cm on the left (L) at the time. He was asymptomatic, denying flank and abdominal pain. Follow up adrenal CT a year later revealed his AMLs increased in size to 8.7x4.2x6.6cm (R) and 13.9x6x8cm (L). Repeat CT another year later showed further rapid enlargement of his AMLs, measuring 11.1x6.1x7.9cm (R) and 17.1x7.8x10.8cm (L). He also exhibited a rising 17-hydroxyprogesterone level of 11,547ng/dL, despite an increased hydrocortisone dose (20mg BID). Although he remained asymptomatic, due to the precipitous growth of the masses and his increasing steroid requirement, a surgical approach was recommended. Open bilateral adrenalectomy was performed by an experienced endocrine surgeon and patient was discharged from the hospital with maintenance hydrocortisone and fludrocortisone therapy as well as strict sick day instructions. AMLs were first described in 1905 by Gierke. In the past, they were often discovered on autopsies, but more recently, due to the increase in imaging, have been incidentally diagnosed on more patients. Mostly, they occur unilaterally and are small (<4 cm) in size. Individuals with hormonal dysfunction such as those with Cushing’s Syndrome, Conn’s syndrome and CAH, particularly with difficult-to-control corticotropin levels, may be at a greater risk of developing AMLs concurrently, however this phenomenon is still not well understood. Small asymptomatic AMLs can be monitored with serial imaging over time. Spontaneous rupture of AMLs was found in 4.5% of cases, mostly occurring in tumors > 10cm, some resulting in retroperitoneal hemorrhage or even hemorrhagic shock. Although there is no clear consensus on surgery, development of symptoms or significant growth (to >10cm), as in our case, is a reason to pursue surgical evaluation especially in a young, otherwise relatively healthy adult.

scholarly journals PREVALENCE AND CHARACTERISTICS OF ADRENAL TUMORS AND MYELOLIPOMAS IN CONGENITAL ADRENAL HYPERPLASIA: A SYSTEMATIC REVIEW AND META-ANALYSIS

2020 ◽  
Vol 26 (11) ◽  
pp. 1351-1361
Author(s):  
Ingrid Nermoen ◽  
Henrik Falhammar
Keyword(s):  
Cytochrome P450 ◽  
Congenital Adrenal Hyperplasia ◽  
Case Reports ◽  
Meta Analysis ◽  
Adrenal Tumors ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Adrenal Imaging ◽  
Cytochrome P450 Family ◽  
21 Hydroxylase Deficiency

Objective: The prevalence of adrenal tumors in congenital adrenal hyperplasia (CAH) is uncertain. Our objective was to estimate the prevalence and characteristics of adrenal tumors and myelolipoma in CAH, and investigate clinical features of this population. Methods: We carried out systematic searches in Medline Ovid and Embase for articles published until January, 2020. Studies with confirmed CAH, biochemically and/or genetically, were included. The two authors independently extracted data from each study. Results: Six cohort studies were included in the prevalence calculation. In addition, 32 case reports on adrenal myelolipomas and CAH were included. The prevalence of adrenal tumors in CAH was 29.3%. When only studies with genetically verified cytochrome P450, Family 21, subfamily A, polypeptide 2 gene ( CYP21A2) mutations were included the prevalence was 23.6%. The prevalence of myelolipoma in CAH was 7.4% (verified CYP21A2 mutations 8.6%). The proportion of myelolipoma in the adrenal tumors was 25.4% (genetically verified 36.6%). The median (range) age at tumor diagnosis was 36.0 (12 to 60) years and there were more tumors in males than in females (37.9% versus 22.1%; P<.05). In patients with myelolipomas, 93.5% had an undiagnosed or poorly managed CAH. Conclusion: Patients with CAH had a high prevalence of adrenal tumors, particularly myelolipomas. Those with myelolipomas had a high frequency of late-diagnosed or poorly controlled CAH. Adrenal imaging may be considered in patients with CAH, especially if abdominal pain is present. Abbreviations: ACTH = adrenocorticotropic hormone; CAH = congenital adrenal hyperplasia; CT = computed tomography; CYP21A2 = cytochrome P450, Family 21, subfamily A, polypeptide 2 gene; HU = Hounsfield units; MRI = magnetic resonance imaging; 21-OHD = 21-hydroxylase deficiency; 17-OHP = 17-hydroxyprogesterone; SV = simple virilizing

Adrenal morphology in a large cohort of adult subjects with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

2019 ◽  
Author(s):  
Claudia Oriolo ◽  
Daniela Ibarra Gasparini ◽  
Paola Altieri ◽  
Francesca Ruffilli ◽  
Francesca Corzani ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Large Cohort ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
21 Hydroxylase Deficiency
Sign in / Sign up

Export Citation Format

Share Document