hrp0095p1-389 | Thyroid | ESPE2022

Increasing incidence of Pediatric Graves’ Disease

Boros Emese , Heinrichs Claudine , Ulgiati Fiorenza , Touzani Sara , Brachet Emese Boros Cécile , Heinrichs Claudine , Ulgiati Fiorenza , Touzani Sara , Brachet Emese Boros Cécile , Heinrichs Claudine , Ulgiati Fiorenza , Touzani Sara , Brachet Emese Boros Cécile , Heinrichs Claudine , Ulgiati Fiorenza , Touzani Sara , Brachet Cécile

Introduction: Graves’ diseases is a rare autoimmune disease in children. Viral infections are considered as a trigger for autoimmune thyroid disorders. A temporal association between SARS-CoV-2 and a novel pediatric hyperinflammatory condition called Paediatric inflammatory multisystem syndrome has been reported in 2020, raising questions about the link between SARS-CoV-2 and autoimmune and autoinflammatory diseases. Over the last year (2021), we noticed...

hrp0097fc12.6 | Thyroid | ESPE2023

TSH screening in premature newborns: a critical appraisal of the value of a second sample.

Boros Emese , Van Vliet Guy , Heinrichs Claudine , Ulgiati Fiorenza , Vicinanza Alfredo , Marcelis Lionel , Brachet Cécile

Introduction: Consensus guidelines (2021) state that a second dry blood spot (DBS) should be considered for newborn screening (NBS) in preterms (delayed TSH rise).Objective: To evaluate the diagnostic yield of an NBS strategy including a second DBS at 14 days in preterms.Material and Methods: Retrospective study of 2 cohorts. Cohort 1: live births <37 weeks of gestational age (G...

hrp0097p1-402 | Adrenals and HPA Axis | ESPE2023

Micronodular bilateral adrenal hyperplasia: about 2 cases in early childhood

Lambert Sophie , A Stratakis Constantin , Chivu Olimpia , Boros Emese , Heinrichs Claudine , Ulgiati Fiorenza , Brachet Cécile

Background: Micronodular bilateral adrenal hyperplasia (MiBAH) is a rare cause of adrenal Cushing syndrome (CS) that may be subdivided in two main entities: primary pigmented nodular adrenocortical disease (PPNAD) and isolated micronodular adrenocortical disease (i-MAD). The most common presentation of MiBAH is familial PPNAD as part of Carney complex (CNC). The underlying genetic defect in most forms of PPNAD is inactivating germline mutations of the PRKAR1A ...

hrp0097p1-331 | Multisystem Endocrine Disorders | ESPE2023

A patient with multi-locus imprinting disturbance and 46, XY hypovirilization

Ulgiati Fiorenza , Boros Erica , Vicinanza Alfredo , Driessens Natacha , Netchine Irene , Brachet Cécile , Heinrichs Claudine

Hypomethylation of the ICR1 in 11p15 is the epigenetic alteration causing Silver Russel Syndrome (SRS) in over 50% of the patients. It is reported that 7-38% of SRS patients have multi-locus imprinting disturbance (MLID). MLID has been suggested to result from maternal mutations affecting the acquisition or maintenance of imprints. We report on a patient with MLID who presented with features of SRS and Temple syndrome in addition to severe 46 XY hypovirilisation, pseudohypopar...

hrp0097p2-41 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

5α-Reductase Type 2 Deficiency over three decades in a single center

Vicinanza Alfredo , Heinrichs Claudine , Ulgiati Fiorenza , Lambotte Isabelle , Boros Emese , Brachet Cécile

Female phenotype and sex reversal are often reported in 46,XY patients with 5α-Reductase Type 2 Deficiency (5αRD2). In case of late diagnosis, at puberty, virilization occurs. Over the years, sex assignment in case of early diagnosis evolved from female to male. We report four cases of 5αRD2, managed differently over three decades. All children presented with a female phenotype (EGS 3-4), palpable gonads, absent uterus, and 46,XY karyotype. All patients were ...