Cushing's syndrome in infancy due to ectopic ACTH secretion by a sacro-coccygeal teratoma.
BACKGROUND
Adenocorticotropic hormone (ACTH)-dependent Cushing's syndrome in infancy is extremely rare. We describe the case of a sacro-coccygeal ectopic ACTH-secreting immature teratoma in an infant who also presented the triad of defects characteristic of Currarino syndrome.


METHODS
A girl was born with a large immature teratoma in the sacro-coccygeal region associated with anal atresia. At the age of 7 days, the concentration of α-fetoprotein (AFP) was above the age-specific normal range. Two non-radical surgical excisions of the tumour were performed. At the age of 7 months, she developed polyphagia, acne, hirsutism, hypertension and hypokalemia with elevated ACTH and absence of serum cortisol circadian rhythm. Immunostaining of tumour tissue showed ACTH-immunoreactive cells. Due to unsuccessful therapy with ketoconazole and resistance to antihypertensive medications [blood pressure (BP) 210/160 mmHg], metyrapone was administered, which controlled her ACTH and cortisol levels in the normal range. Following further removal of tumour bulk after three operations during the first year of life, there was a decrease of BP to normal values.


CONCLUSIONS
A rare case of ectopic ACTH syndrome causing Cushing's syndrome in infancy in the context of Currarino syndrome is reported. Radical surgery has resulted in excision of the tumour and current control of Cushing's syndrome.
Department of Pediatrics, Endocrinology and Diabetes with a Cardiology Unit, Medical University in Bialystok, Bialystok.
Marta
M
Rydzewska
Department of Pediatric Oncology and Hematology, Medical University of Bialystok, Bialystok.
Maryna
M
Krawczuk-Rybak
Department of Pediatrics, Endocrinology and Diabetes with a Cardiology Unit, Medical University in Bialystok, Bialystok.
Adrianna
A
Zajkowska
Department of Pediatrics, Endocrinology and Diabetes with a Cardiology Unit, Medical University in Bialystok, Bialystok.
Natalia
N
Jurczuk
Department of Children's Surgery and Transplantology, Children's Memorial Health Institute, Warsaw.
Dariusz
D
Polnik
Department of Endocrinology and Diabetology, Children's Memorial Health Institute, Warsaw.
Mieczysław
M
Szalecki
Department of Endocrinology and Diabetology, Children's Memorial Health Institute, Warsaw.
Elżbieta
E
Moszczyńska
Barts and the London School of Medicine and Dentistry, London.
Martin O
MO
Savage
Department of Pediatrics, Endocrinology and Diabetes with a Cardiology Unit, Medical University in Bialystok, ul. Waszyngtona 17, 15-274 Białystok.
Artur
A
Bossowski
D000182:ACTH Syndrome, Ectopic / Q000097:blood / Q000150:complications* / Q000628:therapy; D000324:Adrenocorticotropic Hormone / Q000378:metabolism*; D000328:Adult; D002675:Child, Preschool; D003050:Coccyx / Q000378:metabolism / Q000473:pathology*; D003480:Cushing Syndrome / Q000097:blood / Q000209:etiology* / Q000628:therapy; D005260:Female; D006801:Humans; D011379:Prognosis; D012447:Sacrum / Q000378:metabolism / Q000473:pathology*; D013724:Teratoma / Q000378:metabolism / Q000473:pathology*
D000324:Adrenocorticotropic Hormone
Currarino syndrome; Cushing’s syndrome; ectopic ACTH syndrome; immature teratoma; metyrapone