hrp0092p2-284 | Thyroid | ESPE2019

Papillary Thyroid Cancer Associated with Hyperthyroidism

Acar Sezer , Paketçi Ahu , Demir Korcan , Ates Oguz , Özer Erdener , Özdogan Özhan , Böber Ece , Abaci Ayhan

Introduction: The most common causes of hyperthyroidism in the pediatric age group are autoimmune conditions (Graves' disease or Hashitoxicosis). Hyperfunctioning thyroid carcinomas are rarely reported. In this case report, we present a 17-year-old girl who was diagnosed with papillary thyroid carcinoma upon testing for hyperthyroidism.Case: A 17-year-old girl had presented to another center with a 1-month history of...

hrp0089p3-p353 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P3 | ESPE2018

A Novel Compound Heterozygous Mutation in CYP19A1 Resulting in Aromatase Deficiency with Normal Gonadotropin Levels and Ovarian Tissue

Acar Sezer , Paketci Ahu , Onay Huseyin , Cankaya Tufan , Gursoy Semra , Ozhan Bayram , Abacı Ayhan , Ozer Erdener , Olguner Mustafa , Bober Ece , Demir Korcan

Introduction: Aromatase deficiency leading to virilization in mother and female fetuses during pregnancy is a rare disease. It is characterized by impaired estrogen production, increased gonadotropins, and ovarian cysts. Herein, we report a clinical phenotype of the virilized female due to a novel compound heterozygous mutation in CYP19A1.Case report: A 4-month-old girl was referred due to cliteromegaly. Her mother had developed acne, hair loss,...