hrp0086rfc11.5 | Thyroid | ESPE2016

Novel Homozygous Mutation in the Sodium/Iodide Symporter (NIS) Gene Highlight by Next Generation Sequencing (NGS) in a Patient with Congenital Hypothyroidism

Petit Isabelle Oliver , Gennero Isabelle , Savagner Frederique

Background: The ability to concentrate iodide actively is a characteristic feature of the thyroid gland. This function is mediated through the sodium iodine symporter (NIS), a glycoprotein located in thyrocytes’membrane. Iodide transport defect (ITD) by NIS defects can result in hypothyroidism with variable degree of goiter and low to absent radio iodide uptake. Mutations in SLC5A5 gene encoding NIS are reported to be a rare form of dyshormonogenetic congenital hypothyroi...

hrp0086fc15.3 | Late Breaking | ESPE2016

Contribution of Next Generation Sequencing Approach for Management of Congenital Hypothyroidism with Eutopic Thyroid Gland

Savagner Frederique , Gennero Isabelle , Edouard Thomas , Cartault Audrey , Tauber Maithe , Petit Isabelle Oliver

Background: Congenital hypothyroidism (CH) is referred to dyshormonogenesis for 15 to 30%. Homozygous mutations associated have been demonstrated in DUOX2, TPO, TG, SLC5A5 (NIS), SLC26A4 (Pendred), DUOXA2, and IYD (DEHAL1) genes.Objective and hypotheses: Previous studies focusing on one or few thyroid-specific genes have proved not to be comprehensive enough for understanding physiopathological mechanisms of HC with dyshormonogenesis. Emerging diagnostic...

hrp0084p3-1197 | Thyroid | ESPE2015

Congenital Hypothyroidism Incidence and Dysgenesis or Dyshormonogenesis Prevalence in a Large Infants Cohort from South of France

Petit Isabelle Oliver , Lobinet Emilie , Gennero Isabelle , Edouard Thomas , Cartault Audrey , Tauber Maithe

Background: Congenital hypothyroidism (CH) is the most frequent endocrine disease in infants with prevalence ratio in the range of 1:2000–1:4000 new-borns. The disorder can be permanent (CHP) or transient (CHT). CH can be classified into two main groups: Dysgenesis, which accounts classically for 80–85% of cases and dyshormonogenesis for remaining 15–20%. From the last decade, studies described a upward trend for CH prevalence and changes in groups’ proport...

hrp0089p3-p067 | Bone, Growth Plate & Mineral Metabolism P3 | ESPE2018

Neonatal Hypocalcemia Revealing a Malignant Osteopetrosis

Porquet-Bordes Valerie , Gohier Heloise , Lescure Sandra , Pasquet Marlene , Baunin Christiane , Gennero Isabelle , Tauber Maite , Salles Jean Pierre , Edouard Thomas

Background: A one-month girl was referred to our unit for hypocalcemia. She was the first child of healthy non-consanguineous parents. Her family history was unremarkable except a miscarriage in the mother and oligoasthenospermia in the father that justified a medically assisted reproduction. She was born eutrophic at term after a pregnancy marked by a moderate gestational diabetes. On day 3, a routine neonatal screening revealed a severe asymptomatic hypocalcemia (total calci...

hrp0089p3-p068 | Bone, Growth Plate & Mineral Metabolism P3 | ESPE2018

Frontal Behavior Dysfunctions Revealing a Dramatic Progression of Complex Cranial Base Abnormalities in a Severe Osteogenesis Imperfecta

Porquet-Bordes Valerie , Grandgeorge Naia , Moulin Pierre , Cheuret Emmanuel , Boetto Sergio , Sales De Gauzy Jerome , Gennero Isabelle , Tauber Maite , Edouard Thomas , Salles Jean Pierre

Background: In our bone unit, we were following since their younger age, two brothers with a severe osteogenesis imperfecta. We had no genetic confirmation but the severity of the disease combined with unaffected consanguine parents argues for a recessive autosomal transmission. Both present with highly severe form of osteogenesis imperfecta: repeated vertebral and peripheral fractures, long bone deformations, centromedullary nails on the lower limbs, major motor handicap and ...