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...

hrp0097p1-331 | 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 ...