hrp0095fc1.1 | Thyroid | ESPE2022

Neonatal TSH screening for congenital hypothyroidism: before discharge or at home?

Boros Emese , Marcelis Lionel , Van Vliet Guy , Elilie Mawa Ongoth Farel , Heinrichs Claudine , Brachet Cecile

In Belgium, neonatal TSH screening for congenital hypothyroidism has been performed between day 3 and 5 of life since the late seventies. In January 2015, a policy of early discharge of healthy neonates was implemented so that the neonatal screening strategy had to be adapted. Between January 2015 and September 2019, dried blood spot sampling was mostly collected at home AFTER discharge at 72 h of life (Newborn Screening Strategy 1 (NBS1)). After October 2019, sampling was mos...

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...

hrp0092p1-86 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Extreme Short Stature and Poor Pubertal Growth: When FBN1 is the Culprit

Brachet Cécile , Boros Emese , Soblet Julie , Vilain Catheline , Heinrichs Claudine

Introduction: Very short stature is a common presenting complain that gives rise to numerous investigations. FBN1 heterozygous mutations cause acromelic dysplasia syndromes. The phenotypic spectrum of these growth disorders is broad, ranging from short stature with short extremities, stiff joints, skin thickening with tracheal stenosis and cardiac valvulopathy to nearly isolated short stature. Here, we report on a girl with disproportionate short stat...

hrp0092p2-237 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Heterozygous OTX2 Deletion in a Boy with Normal Eye Development and Normal Pituitary Function

Boros Emese , Boitsios Gramatina , Vilain Catheline , Balikova Irina , Heinrichs Claudine , Brachet Cécile

Introduction: Orthodenticle homeobox 2 (OTX2) is a transcription factor that plays a critical role in brain and eye development. Heterozygous deleterious mutations in this gene lead to eye malformation such as anophthalmia, microphthalmia, coloboma or optic nerve hypoplasia, normal or hypoplastic pituitary gland and normal or ectopic posterior pituitary gland with isolated growth hormone deficiency or combined pituitary hormone deficiency. There is no...

hrp0094p1-190 | Pituitary B | ESPE2021

Six novel variants in the MKRN3 gene causing central precocious puberty: characteristics of ten patients and their affected relatives

Gernay Caroline , Brachet Cecile , Tenoutasse Sylvie , Boros Emese , Libioulle Cecile , Heinrichs Claudine ,

Background: In 2013, Abreu et al identified loss-of function mutation in the MKRN3 gene of fifteen patients from five families with idiopathic central precocious puberty (iCPP), highlighting the implication of this maternally imprinted gene in this still poorly understood condition. Since this study, other mutations have been described and now represent the most common genetic cause of iCPP.Objective: The objective of th...

hrp0097fc12.3 | Thyroid | ESPE2023

Hypothyroidism due to IYD bi-allelic pathogenic variants: clinical description of eight patients

Boros Emese , Vilain Catheline , Driessens Natacha , Heinrichs Claudine , Brachet Cécile

Aim: To describe the phenotypes of patients harboring bi-allelic pathogenic variants in IYD gene followed in our Paediatric Endocrinology Clinic.Results: Eight patients (from 4 consanguineous families of Moroccan origin) were homozygous carriers for a pathogenic variant in IYD gene. Their clinical presentation is described in table. All patients presented with a large goiter and severe hypothyroidism wi...

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 ...