ESPE Abstracts (2023) 97 P2-78

ESPE2023 Poster Category 2 Adrenals and HPA Axis (37 abstracts)

Massive adrenocortical carcinoma with right atrium invasion in a two-year old girl with Li Fraumeni syndrome – possibility of succesful ressection after neoadjuvant chemotherapy

Bárbara Reis Krämmer , Natália Faviero de Vasconcellos , Ticiana da Costa Rodrigues , Mauro Antônio Czepielewski , Guilherme Guaragna Filho & Leila Cristina Pedroso de Paula

Pediatric Endocrinology Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil

Background: In Brazil, specially in the south, there is a high prevalence of p53 mutations – 1:300 compared to 1:5000-1:20000 incidence worldwide. (1) As a consequence, adrenocortical carcinoma as a cause of virilization in children is much more common in our practice.

Clinical Case: M.P.O., a 32-month-old girl, was referred to our institution - Hospital de Clínicas de Porto Alegre - in May 2022 due to progressive abdominal swelling, hirsutism, and premature pubarche. At presentation, M.P.O. had a high BMI (19,8 kg/m2) with an impression of increased muscle mass, normal height for age (90cm p27), high blood pressure, fine and dark hair across the legs, face, and arms, axillary terminal hair, clitoromegaly, and a Tanner stage of B1P4. It was unclear when the virilization had started, but the patient had a reportedly normal physical examination at birth. During anamnesis, it was revealed that there was a family history of lethal adrenocortical carcinoma. The laboratorial evaluation showed normal fasting glucose, slightly elevated morning cortisol of 21,3 mg/dL, an inappropriately normal ACTH of 44,2 pg/mL, a normal 24-hour urinary cortisol, an elevated DHEA-S of 6143,4 mg/dL – more than 20 times the reference value for age and sex, elevated androstenedione of 10 ng/dL, a markedly increased testosterone of 343 ng/dL, normal gonadotropins but a discretely elevated estradiol of 28 pg/mL, an aldosterone of 3,66 ng/dL and renin levels of 44,3 mUI/L. Imaging studies revealed an enormous tumoral mass of 750 cm3. The patient weighed 15 kg at diagnosis, and the represented 5% of her body weight. The tumor extended from the right adrenal gland towards the inferior cava vein and the right atrium, occupying 50% of this heart cavity, and protruded through the tricuspid valve during diastole. Initially considered inoperable, the tumor was later resected after six months of chemotherapy involving cisplatin, etoposide, doxorubicin, and mitotane, and a regression in size of almost 70%. Pathology studies confirmed the adrenocortical origin of the tumor. Genetic analysis showed a pathogenic variant in the TP53 gene c.1010G>A (p.Arg337His) in heterozygosity. The family received adequate genetic counseling. M.P.O. is currently three years old and continues to receive mitotane treatment, with no signs of disease relapse.

Discussion: This case report discusses the diagnosis and management of a potentially lethal advanced adrenocortical cancer, a cause of virilization of a 2 year-old-girl. The Pediatric Endocrinologist must be aware of this potential diagnosis and its treatment.

Volume 97

61st Annual ESPE (ESPE 2023)

The Hague, Netherlands
21 Sep 2023 - 23 Sep 2023

European Society for Paediatric Endocrinology 

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