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CASE REPORT
A Rare Presentation of Infantile Virilization Secondary to Malignant Etiology
V. Dasarwar Nagesh1 . D. Ramkrishnan Santosh1 . N. Datla Sravya1
Received: 2 March 2016 / Accepted: 9 November 2016 /Published online: 18 November 2016 C Indian Association of Surgical Oncology 2016 ☐
Abstract Adrenocortical tumor is a rare malignancy (1-2/ million) in children with a heterogenous presentation and gen- erally poor prognosis. We report two cases of adrenocortical carcinoma who presented primarily with virilization along with cushingoid features and hypertension. Both children were managed with surgical resection of tumor, steroid re- placement, and antihypertensives.
Keywords Virilization . Clitoromegaly . Cushing syndrome . Adrenocortical carcinoma
Introduction
Adrenocortical carcinoma is a rare but highly aggressive ma- lignancy with an estimated annual incidence of 1.5 to 2 per million population [1]. Females are more commonly affected. There is bimodal age distribution with peaks occurring before age 5 years and a second peak in the fourth to fifth decade [2]. The prognosis is poor with a significant proportion (21 to
Key Messages
1. Adrenocortical carcinoma presenting as cushingoid features in early infancy is extremely rare.
2. Early suspicion and appropriate management can be life saving.
☒ V. Dasarwar Nagesh dsrwr@yahoo.co.in
D. Ramkrishnan Santosh dr.rsantosh@gmail.com
N. Datla Sravya sravya.datla516@gmail.com
1 GMR Varalakshmi Care Hospital, Dist. Srikakulam, Rajam, Andhra Pradesh, India
39%) of patients having distant metastasis at the time of pre- sentation [2], and a 5-year and overall survival ranges between 38 and 60% [1]. Even after curative resection, the majority of patients develop early tumor recurrence or distant metastasis [1, 2].
Adrenocortical tumors may occur sporadically or as a com- ponent of certain hereditary syndromes and are sometimes associated with syndromes such as the Li-Fraumeni syn- drome, Beckwith-Weidemann syndrome, multiple endocrine neoplasia-1, Carney complex, and congenital adrenal hyperplasia [9, 10].
Case Report
Case 1 An 8-month-old girl presented with excessive weight gain, predominantly in the truncal region and face, hirsutism, and pubic hair growth. On examination, cushingoid pheno- type was observed with hirsutism, facial and pubic hair, clitoromegaly, and hypertension, BP 142/90 mmhg [normal for age-80/50] (Fig. 1a-c).
Biochemical evaluation showed normal plasma ACTH, se- rum cortisol 42.1 mcg/dl (normal 3.7-19.4 mcg/dl), testoster- one 6.91 g/dl (normal 0.11-0.78 g/mg), DHEA-S 28.8 mmol/1 (normal 0.01-0.53 mmol/l), and androsterdione >12.0 ng/ml (normal 0.50-4.8 ng/ml). Complete blood profile showed Hb 11.3 g% (normal 10-14 g%), TC 11400 cells/cumm, platelets 6.2 lakhs, and ESR 62 mm at the end of 1 h; serum electro- lytes, calcium, and renal and liver functioning tests were with- in normal limits. CT abdomen with I.V contrast showed 5.1 cm*5.2 cm mass lesion of soft tissue density attenuation in the right suprarenal region showing mild contrast enhance- ment with no evidence of calcification or liver involvement, suggestive of adrenocortical carcinoma (Fig. 3).
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b
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Right adrenal tumor resection was performed and histo- pathological examination was reported as adrenocortical car- cinoma with no extracapsular extension. Post surgery out- come was favorable with decreased cushingoid appearance and decreased clinical virilization (Fig. 2).
Blood pressure returned to normal. Testosterone, androstendione, and DHEA-S levels returned to normal. Over a period of the next 2-3 months, oral hydrocortisone and enalapril were tapered and stopped (Fig. 3).
Case 2 A 7-month-old female child presented with rapid weight gain and hirsutism. On detailed physical examination, she was having excessive pubic hair, clitoromegaly, hyperten- sion [BP-148/88], and cushingoid features. Abdominal pal- pation showed lump in the left side of the abdomen. Biochemical evaluation showed normal plasma ACTH, serum cortisol 84.0mcg/dl (normal 3.7-19.4 mcg/dl), testosterone 9.4 g/dl (normal 0.11-0.78 g/mg), DHEA-S 42.8 mmol/l (nor- mal 0.01-0.53 mmol/l), and androsterdione >17.0 ng/ml (nor- mal 0.50-4.8 ng/ml). Complete blood profile showed Hb 9.3 g% (normal 10-14 g%), TC 9200 cells/cumm, platelets 4.2 lakhs, and ESR 40 mm at the end of 1 h; serum
electrolytes, calcium, renal, and liver functioning tests were within normal limits.
MRI abdomen showed heterogenous 7.7*6.4 cm, mass in the left suprarenal region suggestive of adrenal adenocarcino- ma (Fig. 4).
Left adrenal tumor resection was performed and histopath- ological examination was reported as adrenocortical carcino- ma with no extracapsular extension. Post operative CT abdo- men was reported to be normal with no residual lesion.
Post surgery outcome was favorable with total disappear- ance of cushingoid features, hypertension, and clinical virilization.
Discussion
Adrenocortical carcinoma presenting as cushingoid features in early infancy is extremely rare [1.5-2/million] [1].
Most studies show adrenocortical carcinoma having female preponderance [2]. Adrenal carcinoma presents with evidence of adrenal steroid hormone excess in approximately 60% of cases. Most tumors in children are functional and virilization is by far the most common presenting symptom followed by the cushing syndrome and precocious puberty. Rapidly progressing cushing syndrome with or without virilization is the most frequent presentation. Androgen-secreting adreno- cortical carcinoma in females presents with deepening of the voice, male pattern baldness, and oligomenorrhea.
Although benign adrenocortical tumors tend to secrete a single class of steroid, ACC can secrete various types;
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cosecretion of cortisol with androgens is a frequent combina- tion and is highly suggestive of malignancy [5, 8].
Using a logistic regression model, Hussain et al. [7] found a tumor size of greater than 4 cm and heterogenous enhance- ment to be the most important discriminators of malignancy. Regarding prognosis, the only clinical parameters that are in- variably associated with a poor prognosis are tumor size and resectability [4, 5].
The average survival rate of children with adrenocortical carcinoma is estimated around 50% which increases to 70% when resection is achieved full [3]. The hormonal normaliza- tion occurs in the week following surgery and clinical virilization take weeks to months to disappear. Adrenocortical cell carcinoma generally carries poor progno- sis and is unlike other tumors of the adrenal cortex which are benign (adenomas) and only occasionally cause cushing syn- drome [6].
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