The International Journal of Romanian Society of Endocrinology / Registered in 1938

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October - December 2022, Volume 18, Issue 4
Case Report

Oral H, Guven DC, Ates Ozdemi D, Usubutun A, Gonc N, Arik Z

Proprotein Convertase 1/3 Deficiency with Pelvic Ewing Sarcoma

Acta Endo (Buc) 2022, 18 (4): 508-511
doi: 10.4183/aeb.2022.508

Proprotein convertase 1/3 (PC 1/3) deficiency is a rare, autosomal recessive disorder caused by mutations in the PCSK1 gene. The disease is characterized by earlyonset chronic diarrhea/malabsorption, followed by severe obesity and hormonal deficiencies such as hypocortisolism, hypothyroidism, diabetes insipidus, hypogonadism, growth deficiency, and diabetes mellitus. Ewing’s sarcoma is a rare tumor, usually of small dimensions of neuroectodermal origin that is difficult to distinguish pathologically from a primitive neuroectodermal tumor. A 22-year-old female patient with PC 1/3 deficiency was admitted to our clinic with recurrent urinary tract infections. Magnetic resonance imaging (MRI) revealed an 11x12 cm pelvic mass displacing the uterus. A core-needle biopsy was performed on the pelvic mass. As a result of the pathological evaluation, ıt was diagnosed with pelvic Ewing’s sarcoma. The patient was started on the VAC-IE chemotherapy protocol. We report a case of pelvic Ewing’s sarcoma in a patient with PC 1/3 deficiency. Further research is needed to assess malignancy risk in metabolic disorders including very rare disorders like PC 1/3 deficiency.

Keywords: Proprotein convertase 1/3 deficiency, Ewing’s sarcoma, endocrinopathy, obesity

Correspondence: Hakan Oral MD, Hacettepe University Faculty of Medicine, Department of Internal Medicine, Hacettepe street, Ankara, Sihhiye, 06100, Turkey, E-mail: