ESPE Abstracts (2021) 94 P2-429

1St. Anna Kinderspital, Vienna, Austria; 2Universitätsklinik für Kinder- und Jugendheilkunde Wien, Abteilung für Pädiatrische Pulmologie, Allergologie und Endokrinologie, Vienna, Austria; 3Klinisches Institut für Pathologie, Allgemeines Krankenhaus der Stadt Wien, Vienna, Austria; 4Labdia GmbH, Vienna, Austria

Cowden syndrome (CS) is a cancer predisposition syndrome. The clinical hallmarks of CS are macrocephaly and mucocutaneous lesions. Several tumor types have been described, mostly malignancies of the breast, thyroid, endometrium, kidney and colorectum. The age of onset is extremely variable. So far, only two case reports of children with ovarian tumors in the context of CS have been published, a granulosa cell tumor of a 16-year-old girl (Smpokou et al. 2014) and a bilateral endocrine-inactive dysgerminoma of a 7-year-old girl (Cho et al. 2008). We report on a 4-year-old girl with an ovarian tumor in whom CS was identified as the underlying pathology. The patient presented for hyperandrogenemia with slight clitoral hypertrophy, premature thelarche, pubarche and accelerated growth with increased bone age. The initial testosterone level was 1.58 ng/ml, the oestrogen level was 18 pg/ml. Other causes of precocious puberty or adrenal androgen excess were excluded. Workup during the following months revealed normal MRI of the brain and adrenal glands, as well as normal the urinary steroid profile. Repeated pelvic ultrasound examinations were inconclusive. In the course of the disease, testosterone and oestrogen levels fell continuously to prepubertal levels. After referral of the patient to our center, an MRI of the pelvis was performed and a solid mass in the left adnexal area detected. The mass was resected in toto. Histologic examination revealed a mixed germ cell tumor with dysgerminoma and mature teratoma components, as well as structures suspicious for a hemangioma component. The presence of other clinical abnormalities such as lipomas, keratosis pilaris and macrocephaly led to the suspicion of CS, which could be genetically verified (c.406T>C, heterozyogous missense mutation of the PTEN gene). The oncological follow-up for this patient was adopted accordingly. To the best of our knowledge, this is the first case of mixed germ cell tumor associated with CS in children. In addition, the tumor biology showed a particular dynamic, transitioning from endocrine-active into -inactive.

Volume 94

59th Annual ESPE (ESPE 2021 Online)

22 Sep 2021 - 26 Sep 2021

European Society for Paediatric Endocrinology 

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