hrp0092p3-269 | Late Breaking Abstracts | ESPE2019

IGSF1 Mutation: Treatment in the Absence of Symptoms?

Castets Sarah , Vergier Julia , Godefroy Alice , Saveanu Alexandru , Collignon Patrick , Brue Thierry , Reynaud Rachel

Introduction: Congenital central hypothyroidism is a rare pathology, whose molecular origin has been identified more frequently since discovery of the role of IGSF1. The natural evolution of central hypothyroidism in patients with mutations is not well known however.Case report: A male infant born at term with a normal birth weight received thyroid function tests in the neonatal period because of symptoms of bra...

hrp0086p1-p28 | Adrenal P1 | ESPE2016

Combined Glucocorticoid and Mineralocorticoid Deficiency Related to a New NNT Mutation: A Case Report

Doye Emilie , Roucher-Boulez Florence , Gay Claire-Lise , Castets Sarah , Nicolino Marc , Morel Yves

Background: Familial glucocorticoid deficiency (FGD) is an autosomal recessive disorder characterized by specific failure of adrenocortical glucocorticoid production in response to adrenocorticotropic hormone (ACTH). Mutations of the nicotinamide nucleotide transhydrogenase (NNT) gene have recently been implicated in FGD.Objective and hypotheses: To describe a new case of FGD with combined mineralocorticoid insufficiency and extra adrenal manifestations....

hrp0084p1-159 | Miscelleaneous | ESPE2015

FOXL2 Gene and Combined Pituitary Hormone Deficiency: A Possible Link

Castets Sarah , Saveanu Alexandru , Raybaud Christine , Mallet Delphine , Roucher Florence , Morel Yves , Brue Thierry , Reynaud Rachel , Nicolino Marc

Background: Congenital hypopituitarism is a rare disease. Although our understanding of the involved transcription factors is improving, mutations in candidate genes are rarely identified. Extra-pituitary symptoms can point towards new genes of interest. FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome (BPES), a rare affection that combines congenital alterations of eyelids with ovarian dysgenesis in some families. Moreover, we have previously reported ...

hrp0094p1-84 | Pituitary A | ESPE2021

Pituitary Duplication – A rare and heterogenous spectrum

Goff Nicole , Murphy Nuala , Schwitzgebel Valerie , Castets Sarah , Katugampola Harshini , Stojanovic Marko , Petakov Milan , Gevers Evelien , Dattani Mehul ,

Background: Pituitary gland duplication is a very rare developmental abnormality. It is often associated with other midline anomalies including cleft palate, spinal cord and corpus callosum defects, termed duplication of the pituitary gland-plus syndrome. Of the only 40 cases reported in the literature, most are in females and are often associated with precocious puberty. Duplication of the pituitary gland may arise from blastogenesis defects, with splitting o...

hrp0086rfc7.2 | Gonads & DSD | ESPE2016

Reference Values for External Genitalia Size and Steroid Hormone Levels in Female Neonates

Castets Sarah , Plotton Ingrid , Nguyen Kim-An , Plaisant Franck , Prudon Malika , Laborie Sophie , Souillot Marie , Roche Sylvain , Ecochard Rene , Claris Olivier , Morel Yves , Nicolino Marc , Gay Claire-Lise

Background: Prenatal androgen exposure can lead to variable virilization of external female genitalia. The lack of a consensus definition of clitoromegaly and the limited data available on normal steroid levels in female neonates makes its diagnosis difficult.Objective and hypotheses: The aims of this study were (i) to define reference sizes for external female genitalia in term and preterm neonates as a function of gestational age and birth weight; and ...