Endocrine Abstracts

Introduction: The change in thyroid parameters is described in the case of antiepileptic treatment in the pediatric population, due to interferences within the hypothalamo-pituitary-thyroid axis and due to the increase in the rate of hepatic metabolism of thyroid hormones.Case presentation: We present the case of a 10-year-old boy who addressed our outpatient pediatric endocrinology department for endocrine evaluation in the context of weight growth abou...

IntroductionPituitary stalk interruption syndrome (PSIS) is a rare entity characterized by a triad of thin or interrupted pituitary stalk, aplasia or hypoplasia of the anterior pituitary and absent or ectopic posterior pituitary seen on magnetic resonance imaging (MRI). We are presenting the clinical case of a child who presented for short stature.Case presentationWe present the case of a 4 year and 8 months ...

Introduction: Congenital ichthyoses are a group of inherited keratinization disorders that pose a challenge in terms of diagnosis, treatment, and clinical associations with other pathologies. The association with vitamin D deficiency and possible bone changes is cited, but the exact mechanism of occurrence of endocrine pathologies is not described.Case report: We report the case of a 16-year-old teenage boy known to have congenital ichthyosis, having bee...

Background: According to current guidelines, RET mutation screening is indicated for MEN2 and familial MTC (FMTC) kindreds, as well as for apparently sporadic MTC patients.Aim: To investigate RET mutations in Romanian MEN2, FMTC and sporadic MTC cases.Patients and methods: RET mutation screening was performed by high-resolution melting analysis followed by direct sequencing of PCR products of exons 10-11 in 7 MEN2A families, 2 FMTC...