Adrenocortical carcinoma characterized by gynecomastia: A case report

Abstract

Abstract.We present a 4-yr-old boy with adrenocortical carcinoma (ACC), diagnosed due to the appearance of gynecomastia as the presenting symptom. Six months prior to admission, an acute growth spurt along with the development of bilateral breast swelling was observed. He did not present any features of virilization, including enlargement of the testes, increase in testis volume, and penis size. Laboratory investigations showed gonadotropin-independent hypergonadism, with low LH/ FSH levels and elevated estradiol/testosterone levels. Abdominal computed tomography revealed a large heterogeneous mass adjacent to the right kidney and below the liver. Pathological investigations of the biopsy specimen demonstrated that the tumor was an ACC. Pre- and post-operative combination chemotherapy with mitotane was administered and surgical resection was carried out. Post-surgery, the elevated estradiol/testosterone concentrations reverted to within the reference range. Urinary steroid profile and tissue concentration analysis of estradiol and testosterone indicated the presence of estrogen in the ACC tissue. An investigation for TP53 gene aberrations revealed the presence of a germline point mutation in exon 4 (c.215C>G (p.Pro72Arg)). In ACC, the most common symptom is virilization, and feminization, characterized by gynecomastia, is very rare. However, a diagnostic possibility of ACC should be considered when we encounter patients who have developed gynecomastia without the influence of causative factors such as obesity or puberty, and do not present with the typical signs of virilization.

Adrenocortical Carcinoma: Updates of Clinical and Pathological Features after Renewed World Health Organisation Classification and Pathology Staging

“…In the functioning tumours, many secrete more than 1 hormones (54%) and the most common hormonal manifestation is related to sex hormones. The sex hormones produced by paediatric ACC are mostly androgen (virilising effects) [ 91 ] with a couple of paediatric ACCs oestrogen secreting [ 92 ].…”

Feminizing Adrenocortical Tumors as a Rare Etiology of Isosexual/Contrasexual Pseudopuberty

“…They are usually seen in adult males, and are extremely rarely reported in children. Due to this rarity, FATs are usually reported as single case reports ( 10 , 16 , 19 , 20 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 ). The larger published series usually include only two or three cases ( 7 , 8 , 15 , 41 , 42 ).…”

Gynaecomastia in a male neutered cat with an adrenal tumour and associated hyperprogesteronism, hypercortisolism and hyperaldosteronism

“…24 In humans, gynaecomastia associated with feminising adrenal tumours is usually secondary to hyperoestrogenism, although other hormones such as dehydroepiandrosterone (DHEA), DHEA sulfate (DHEAS) and androstenedione have been reported. [25][26][27][28][29][30][31][32][33] Excess androgens can be aromatised peripherally to oestradiol, leading to clinical signs of hyperoestrogenism. Progesterone-producing adrenal tumours are extremely rare in humans, with four cases reported in women with secondary amenorrhoea or oligomenorrhoea.…”