hrp0089p2-p291 | Multisystem Endocrine Disorders P2 | ESPE2018

Hypoglycemia in Adolescence as the Presenting Sign of Familial MEN1

Justine Bailleul , Natacha Bouhours-Nouet , Valentine Suteau , Maryam Azgal , Marie-Neige Campas , Aurelie Donzeau , Regis Coutant

Multiple Endocrine Neoplasia Type 1 (MEN1) is an inherited autosomal dominant disorder caused by mutations in the MEN1 tumor suppressor gene. Penetrance increases with age. It combines mainly hyperparathyroidism, adenomas of the pancreas and pituitary gland. The prevalence is about 2/100 000. Diagnosis in children is rare except in the case of family screening. We report the diagnosis of a familial MEN1 whose index case was an adolescent girl investigated because of hypoglycae...

hrp0086p1-p557 | Perinatal Endocrinology P1 | ESPE2016

Mutations in MODY Genes: About Four Cases of Congenital Hyperinsulinism

Berthelon Karen , Rouleau Stephanie , Dupuis Clementine , Bouhours Natacha , Donzeau Aurelie , Cessans Christine , Bellanne Christine , Coutant Regis

Background: Congenital hyperinsulinism (HI) is the most common cause of persistent hypoglycemia in infants and children.Objective and hypotheses: Recently, mutations in genes usually involved in MODY 1 and 3 have been described in HI.Method: We present here six cases of hyperinsulinism associated with MODY1 (one case) and MODY3 (four cases) and one case of HI associated with MODY5 mutation.Results: Case 1...

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...

hrp0089p2-p351 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Two Unrelated Cases of Severe Insulin Resistance Due to Insulin Receptor Mutation Discovered During Adolescence

Maryam Azgal , Natacha Bouhours-Nouet , Odile Camard , Ingrid Allix , Valentine Suteau , Justine Bailleul , Marie-Neige Campas , Regis Coutant

Introduction: Severe insulin resistance due to insulin receptor mutation is usually diagnosed at the neonatal period (Donohue and Rabson-Medenhall syndromes), or later in a type A insulin resistance syndrome. We report here two cases of insulin receptor mutation whose presenting signs were less noticeable.Observation: A 13-year-old girl was referred for short stature (Height −2.5 SDS) with SGA (birth length 44.5 cm, at gestational age 41 weeks). Cl...

hrp0089p2-p390 | Thyroid P2 | ESPE2018

Multinodular Goiter in Childhood: Look for DICER1 Mutation

Suteau Valentine , Isabelle Souto , Natacha Bouhours-Nouet , Maryam Azgal , Justine Bailleul , Marie-Neige Campas , Aurelie Donzeau , Patrice Rodien , Regis Coutant

Introduction: Multinodular goiter (MNG) is a common disorder of the thyroid gland, characterized by thyroid enlargement due to the development of multiple hyperplastic nodules. It is infrequent in children. Here, we present the case of two families with novel DICER1 mutations and familial history of nodules in adolescence.Observations: A 10-year-old female presented a MNG. TSH, Free T3, Free T4 were in the normal range and thyroid autoantibodies were neg...

hrp0089p3-p006 | Adrenals and HPA Axis P3 | ESPE2018

An Adrenal Tumor Ppresenting as a Premature Pubarche in a 7 Year-old Girl

Marie-Neige Campas-Lebecque , Isabelle Souto , Stephanie Proust , Marc-David Leclair , Valentine Suteau , Justine Bailleul , Maryam Azgal , Natacha Bouhours-Nouet , Regis Coutant

Introduction: Premature pubarche is the most frequent diagnosis when children present moderate pubic hair development, but other diagnosis must be ruled out. We report the case of a child with premature pubarche with hormonal results in the physiological range, corresponding to an adrenal tumor.Observation: A girl aged 6.8 years consulted for precocious pubertal development (pubic hair stage 3, breast stage 2), with moderate acne. There was no virilizati...

hrp0094fc10.2 | Thyroid | ESPE2021

Prevalence and outcome of Congenital Central Hypothyroidism: A Multicenter Study

Lucie Levaillant , German , Almashanu , De Vries Liat , Gil Merav , Halloun Rana , Haim Alon , Eyal Ori , Magid Yael , Levi Floris , Pivko-Levi Dikla , Nir Judith , Pinhas-Hamiel Orit , Tenenbaum-Rakover Yardena , Natacha Bouhours-Nouet , Frederic Illouz , Nathalie Bouzamondo , Patrice Rodien , Delphine Prunier-Mirebeau , Regis Coutant

Background: More than half of newborns with central congenital hypothyroidism (C-CH) have moderate-to-severe hypothyroidism in the neonatal phase, requiring immediate thyroxine therapy to prevent brain damage. The Israeli newborn screening for CH is based on the measurement of total T4 (TT4) followed by TSH measurement. However, when TSH is within the normal range the physicians are not informed of the results and therefore the diagnosis of C-CH and initiation...