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...

hrp0086p2-p701 | Endocrinology and Multisystemic Diseases P2 | ESPE2016

TPIT Mutation may be Involved in Multiple Pituitary Deficiencies

Degand Pauline , Rouleau Stephanie , Donzeau Aurelie , Bouhours Natacha , Saveanu Alexandru , Reynaud Rachel , COUTANT Regis

Background: Congenital isolated adrenocorticotrophic hormone (ACTH) deficiency (IAD) is a rare condition. It is characterized by low plasma and cortisol levels and preservation of all other pituitary hormones (2 cases described with transient partial growth hormone deficiency). The principal molecular cause is identified as TPIT mutation. We present here the case of a neonate with TPIT mutation and ACTH deficiency associated with probable growth hormone and thyrotropin deficie...

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 ...

hrp0086rfc3.6 | Pituitary | ESPE2016

Priority Target Conditions of Growth-Monitoring in Children: Toward Consensus

Scherdel Pauline , Reynaud Rachel , Pietrement Christine , Salaun Jean-Francois , Bellaiche Marc , Arnould Michel , Chevallier Bertrant , Carel Jean-Claude , Piloquet Hugues , Jobez Emmanuel , Cheymol Jacques , Heude Barbara , Chalumeau Martin

Background: Growth monitoring of apparently healthy children aims at early detection of severe underlying conditions. Strong empirical evidence shows that current practices of growth monitoring are suboptimal. Practice standardisation with validated tools requires answering two questions: Which conditions should be targeted? How should abnormal growth be defined?Objective and hypotheses: To obtain consensus on a short list of priority target conditions o...

hrp0095p2-264 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

StAR gene mutation : description of puberty development and genital life from 6 patients 46,XX with classic Congenital Lipoid Adrenal Hyperplasia.

Jardin-Millet Isabelle , Amouroux Cyril , Dufourg Marie-Noelle , Lambert Anne-Sophie , Bouvattier Claire , Parada-Bonte Fabienne , Reynaud Rachel , Demeinex Estelle , Courbiere Blandine , Albarel FrÉDÉRique , Netchine IrÈNe , Houang Muriel

Introduction: Congenital Lipoid Adrenal Hyperplasia (CLAH) is a severe deficiency of adrenal and gonadal steroidogenesis, caused by mutations in the StAR gene and the accumulation of cholesterol in the outer mitochondrial membrane due to steroidogenic acute regulatory protein (StAR) deficiency. Affected patients present peripheral adrenal insufficiency with early onset, and variable phenotypes at the age of puberty.Objective of o...

hrp0082p1-d3-96 | Sex Development | ESPE2014

Isolated Hypospadias and Exposure to Endocrine Disrupting Chemicals During Pregnancy: a Multi-Institutional Controlled Study in a High Prevalence Area

Kalfa Nicolas , Philibert Pascal , Broussous Sylvie , Chouikh Taieb , Masmoudi Mohamed , Audran Francoise , Paris Francoise , Servant Nadege , Sultan Charles , Orsini Mattea , Zahhaf Amel , Daures Jean Pierre , Lehors Helene , Guys Jean Michel , Reynaud Rachel , Alessandrini Pierre , Bastiani Florence , Kurzenne Jean Yves , Wagner Kathy , Lacombe Gerard Morisson

Background: Numerous studies focused on the association between hypospadias and Endocrine Disrupting Chemicals (EDC) exposures. The wide variability of phenotypes included in these studies, the absence of comparison groups representative of the populations and the absence of concomitant genetic testing to rule out another cause make the results questionable.Objective and hypotheses: We performed a prospective phenotype-specific analysis of patients with ...

hrp0084lbp-1264 | Late Breaking Posters | ESPE2015

Family History of Genital Malformation is Under-Estimated in Children with Isolated Hypospadias: A Clinical Report of 105 Families

Kalfa Nicolas , Philibert Pascal , Broussous Sylvie , Gaspari Laura , Coffy Amandine , Fauconnet-Servant Nadege , Audran Francoise , Lehors Helene , Guys Jean Michel , Reynaud Rachel , Merrot Thierry , Wagner Kathy , Breaud Jean , Kurzenne Jean Yves , Bastiani Florence , Valla Jean Stephane , Dobremez Eric , Daures Jean-Pierre , Paris Francoise , Sultan Charles

Background: Severe forms of 46,XY DSD with uncertain sex may have a family history (FH) in ~15–20% of cases. On the other side of the DSD spectrum, data regarding isolated hypospadias is sparse and a FH of genital malformation is thought to be less frequent.Objective and hypotheses: The aims of the study were i) to determine the frequency of genital abnormalities in families of isolated hypospadiac boys, ii) to determine whether there is a particula...