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

다국어 초록 (Multilingual 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-yearold 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.

참고문헌 (Reference)

1 Patocs A, "Novel mutation of the CYP17 gene in two unrelated patients with combined 17alpha-hydroxylase/17,20- lyase deficiency: demonstration of absent enzyme activity by expressing the mutant CYP17 gene and by threedimensional modeling" 97 : 257-265, 2005

2 Schindler H, "Myelolipoma of the adrenal gland in adrenogenital syndrome" 725 : 695-697, 1975

3 Selye H, "Hormonally induced transformation of adrenal into myeloid tissue" 26 : 211-233, 1950

4 Nermoen I, "High frequency of adrenal myelolipomas and testicular adrenal rest tumours in adult Norwegian patients with classical congenital adrenal hyperplasia because of 21-hydroxylase deficiency" 75 : 753-759, 2011

5 Ioannidis O, "Giant bilateral symptomatic adrenal myelolipomas associated with congenital adrenal hyperplasia" 17 : 775-778, 2011

6 McGeoch SC, "Giant bilateral myelolipomas in a man with congenital adrenal hyperplasia" 97 : 343-344, 2012

7 Mermejo LM, "Giant adrenal myelolipoma associated with 21-hydroxylase deficiency: unusual association mimicking an androgen-secreting adrenocortical carcinoma" 54 : 419-424, 2010

8 Répássy DL, "Giant adrenal myelolipoma" 7 : 72-73, 2001

9 John M, "Congenital adrenal hyperplasia 11beta-hydroxylase deficiency: two cases managed with bilateral adrenalectomy" 50 : e68-e70, 2009

10 German-Mena E, "Adrenal myelolipomas in patients with congenital adrenal hyperplasia: review of the literature and a case report" 17 : 441-447, 2011

11 Daneshmand S, "Adrenal myelolipoma: diagnosis and management" 3 : 71-74, 2006

12 Murakami C, "Adrenal myelolipoma associated with congenital adrenal 21-hydroxylase deficiency" 31 : 803-806, 1992

13 Osborn M, "Adrenal myelolipoma - clinical, radiological and cytological findings: a case report" 13 : 242-246, 2002

14 Cyran KM, "Adrenal myelolipoma" 166 : 395-400, 1996

15 Palmer WE, "Adrenal myelolipoma" 156 : 724-, 1991

16 Lam KY, "Adrenal lipomatous tumours: a 30 year clinicopathological experience at a single institution" 54 : 707-712, 2001

17 Nagai T, "17alpha-hydroxylase deficiency accompanied by adrenalmyelolipoma" 40 : 920-923, 2001