hrp0089rfc14.4 | Multisystem Endocrine Disorders | ESPE2018

A Novel Germline DICER1 Mutation in a Girl with Multinodular Goiter and Ovarian Sertoli-Leydig Cell Tumor

Settas Nikolaos , Michala Lina , Berthon Annabel , Faucz Fabio , Iliadi Alexandra , Gkika Anna , Dacou-Voutetakis Catherine , Stratakis Constantine , Voutetakis Antonis

Background: DICER1 is an endoribonuclease that acts post-transcriptionally by processing mRNA into siRNA and microRNA, thus leading to mRNA downregulation. DICER1 syndrome is usually caused by germline variants and is characterized by a variety of benign or malignant tumors: pleuropulmonary blastoma, ovarian Sertoli-Leydig cell tumor, cystic nephroma, pituitary blastoma and multinodular goitre. Patients with germline aberrations in the DICER1 gene may carry additional...

hrp0084p1-162 | Miscelleaneous | ESPE2015

Congenital Hypothyroidism: Reduction in the Female to Male Ratio Following the Decrease of the TSH Cut-off Point Used for Neonatal Screening

Voutetakis Antonis , Giogli Vassiliki , Platis Dimitris , Gika Anna , Iliadi Alexandra , Mengreli Chrysanthi , Chrousos George , Kanaka-Gantenbein Christina , Girginoudis Panagiotis

Background: Since the initiation of neonatal screening-programs for congenital hypothyroidism (CH) in the 1970’s, an increase in the incidence of CH has been observed. This change has been attributed to the gradual use of lower TSH cut-offs that lead to the detection of milder cases of CH. Based on currently used screening cut-offs, CH occurs in approximately 1:2 000 to 1:4 000 newborns, varying by geographic location and ethnicity. A female predominance, approaching a 2:...

hrp0086p1-p897 | Thyroid P1 | ESPE2016

Congenital Hypothyroidism: The Use of a TSH Cut-off Limit of 6mU/L and the ESPE Criteria for LT4 Treatment Leads to the Diagnosis of Mild but mostly Permanent Forms of Hypothyroidism

Gika Anna , Iliadi Alexandra , Platis Dimitris , Giogli Vasiliki , Arditi Jessica , Tzifi Flora , Kyrimis Taxiarchis , Vasilakis Ioannis , Chrousos George , Girginoudis Panagiotis , Kanaka-Gantenbein Christina , Voutetakis Antonis

Background: Since the initiation of neonatal screening programs for Congenital Hypothyroidism (CH) in the 1970’s, a gradual decrease of TSH cut-off limits has been observed worldwide. Nevertheless, lack of universal consensus has led to wide variation of cut-off limits and LT4 therapy criteria among screening programs, even within the same country. The Greek neonatal CH screening program is carried out by a single laboratory that uses one of the lowest cut-off limits worl...

hrp0086p1-p920 | Thyroid P1 | ESPE2016

Lowering of the TSH cut-off Limit Substantially Alters Universally Accepted Key Features of Congenital Hypothyroidism. Reconsideration of the Use of FT4 levels for Diagnosis and Treatment

Iliadi Alexandra , Gika Anna , Platis Dimitris , Giogli Vasiliki , Chouliaras Giorgos , Kosteria Ioanna , Kazakou Paraskevi , Apostolaki Despoina , Chrousos George , Girginoudis Panagiotis , Kanaka-Gantenbein Christina , Voutetakis Antonis

Background: The term Congenital Hypothyroidism (CH) describes children with subnormal thyroid hormone levels present at birth. According to literature, CH has an incidence of ~1:1500–1:3000 births with a clear predominance of females (female:male ratio 2:1) and is mainly caused by thyroid dysgenesis (80%). Low FT4 levels have been used as important criteria for CH diagnosis and treatment initiation. The Greek neonatal CH screening program has followed the TSH cut-off lowe...

hrp0086p2-p952 | Thyroid P2 | ESPE2016

Congenital Malformations, Dysmorphic Syndromes and Neurodevelopmental Problems in Children with Congenital Hypothyroidism

Gkini Marianthi , Gika Anna , Iliadi Alexandra , Platis Dimitris , Giogli Vasiliki , Tataropoulou Kasandra , Paltoglou Giorgos , Kogia Christina , Karagiannis Apostolos , Chrousos George , Girginoudis Panagiotis , Kanaka-Gantenbein Christina , Voutetakis Antonis

Background: A high frequency of extrathyroidal congenital anomalies has been reported in infants with congenital hypothyroidism (CH) detected by neonatal screening. Current ESPE guidelines suggest that congenital malformations, underlying dysmorphic syndromes and psychomotor and language development should be sought for and monitored in CH patients. The identification of co-existing nosologies and malformations is helpful not only for clinical purposes but also for uncovering ...