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hrp0097fc4.5 | Growth and syndromes (to include Turner syndrome) | ESPE2023

From thalidomide embryopathy to genetic defects of the upper limb, internal organs, cerebral midline, and pituitary: The phenotypic spectrum of SALL4

Kodytková Aneta , Anne Amaratunga Shenali , Zemková Daniela , Maratová Klára , Dušátková Petra , Plachý Lukáš , Průhová Štěpánka , Koloušková Stanislava , Lebl Jan

Introduction: In 1950s - 1960s, the thalidomide disaster resulted in congenital malformations in more than 10,000 children. Derivative of thalidomide interferes with early embryonic transcriptional regulation due to selective degradation of SALL4 protein and thus, thalidomide embryopathy phenocopies pathogenic variants of the SALL4 gene. Their phenotypes range from phocomelia, reduced radial ray, to defects of the heart, kidneys, eye, and cerebral mid...

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hrp0097p2-288 | Late Breaking | ESPE2023

Validation of utility of a single LH measurement 40 minutes after depot Leuprolide acetate 3.75 mg and 11.25 mg in assessing gonadotropic activity in girls with CPP: Comparison with a standard GnRH stimulation test at diagnosis and during treatment.

Helvacıoğlu Didem , Demircioğlu Serap , Güran Tülay , Haliloğlu Belma , Türkmen Nilsu , Gurpınar Tosun Buşra , Kahveci Ahmet , Bereket Abdullah

Context: Intravenous Gonadotropin-Releasing-Hormone (GnRH) stimulation test has a central role in evaluating gonadotropic activation in the diagnosis and monitorization of the treatment in patients with central precocious puberty (CPP). However, this test is invasive, laborious, costly and availability of GnRH preparation is limited in some countries.Objective: To evaluate the utility of the LH level measured 40-minutes ...

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ESPE Abstracts

From thalidomide embryopathy to genetic defects of the upper limb, internal organs, cerebral midline, and pituitary: The phenotypic spectrum of SALL4

Validation of utility of a single LH measurement 40 minutes after depot Leuprolide acetate 3.75 mg and 11.25 mg in assessing gonadotropic activity in girls with CPP: Comparison with a standard GnRH stimulation test at diagnosis and during treatment.

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