Ann Pediatr Endocrinol Metab.  2012 Dec;17(4):244-248. 10.6065/apem.2012.17.4.244.

Manifestation of Giant Bilateral Symptomatic Adrenal Myelolipomas in an Adult Patient with Congenital Adrenal Hyperplasia

• Kim YM
• Choi JH
• Lee BH
• Kim GH
• Hong BS
• Ryu YJ
• Yoo HW

• KMID: 1429714
• DOI: http://doi.org/10.6065/apem.2012.17.4.244

Abstract

Adrenal myelolipoma is an uncommon non-functioning tumor that is composed of variable amounts of mature adipose tissue and scattered islands of hematopoietic elements, including erythroid, myeloid, lymphoid series, and megakaryocytes. Adrenal myelolipoma should be differentiated from other fat-containing adrenal masses, such as teratoma, lipoma, and liposarcoma. This case report describes a 50-year-old adult who was raised as a male and developed giant adrenal myelolipomas that presented as symptomatic adrenal masses, and which were misdiagnosed as liposarcoma on radiologic examination. The patient had been raised as a male despite ambiguous genitalia, and a thorough investigation was never carried out because of his poor socioeconomic status. Physical examination showed profound short stature (<-3.0 standard deviation score), hyperpigmentation, and a micropenis without palpable gonads. Both a uterus and ovaries were evident in the pelvic cavity on abdominopelvic computed tomography. Adrenocorticotropic hormone stimulation tests confirmed adrenal insufficiency. Steroid replacement therapy was initiated before bilateral adrenalectomy and the histologic findings indicated myelolipoma. The patient's karyotype was 46, XX and mutation analysis of the CYP21A2 gene identified compound heterozygosity consisting of p.I173N and p.Q319*. The patient was treated with once-daily 0.5 mg dexamethasone and once-daily 0.1 mg fludrocortisone. Because the subject had been raised as a male, additional procedures such as an oophorohysterectomy are currently under consideration. We here describe an adrenal myelolipoma in this case that was complicated by a 21-hydroxylase deficiency. We conclude from our analysis that patients with congenital adrenal hyperplasia should be screened for incidental adrenal masses to avoid unnecessary surgical procedures.

Keyword

Adrenal glands; Myelolipoma; Congenital adrenal hyperplasia; hydroxylase deficiency; CYP21

MeSH Terms

Adipose Tissue
Adrenal Glands
Adrenal Hyperplasia, Congenital
Adrenal Insufficiency
Adrenalectomy
Adrenocorticotropic Hormone
Adult
Dexamethasone
Disorders of Sex Development
Female
Fludrocortisone
Genital Diseases, Male
Gonads
Humans
Hyperpigmentation
Islands
Karyotype
Lipoma
Liposarcoma
Male
Megakaryocytes
Myelolipoma
Ovary
Penis
Physical Examination
Social Class
Steroid 21-Hydroxylase
Teratoma
Uterus
Adrenocorticotropic Hormone
Dexamethasone
Fludrocortisone
Genital Diseases, Male
Penis
Steroid 21-Hydroxylase