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hrp0089p1-p174 | Growth & Syndromes P1 | ESPE2018

Identification of ADAMTS6 as a Novel Candidate Gene for Idiopathic Short Stature with Advanced Bone Maturation

Warman Diana M , Ramirez Pablo , Marino Roxana , Garrido Natalia Perez , Touzon Maria Sol , Pentreath Matias Pujana , Mattone Maria Celeste , Rivarola Marco , Belgorosky Alicia

Aggrecan (ACAN) is the major proteoglycan in the articular cartilage, critical for the structure and function of growth plate cartilage.Case Report: 11-year-old (y) boy admitted at 1.8 y of chronological age (CA), due to poor growth rate Height (H): 76 cm (−2.75 SDS). Initial physical examination: mild dysmorphic features and prepubertal external genitalia (two scrotal testes, 1 cc volume each). Neurologic maturation was normal. Initial bo...

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ePoster

hrp0086fc7.1 | Gonads & DSD | ESPE2016

Early Loss of Germ Cells in Testis of Androgen Insensitivity Syndrome Patients

Aliberti Paula , Marino Roxana , Ramirez Pablo , Garrido Natalia Perez , Solari Alberto J. , Sciurano Roberta , Ponzio Roberto , Costanzo Mariana , Guercio Gabriela , Warman Diana M. , Mutti Maria L. Galluzzo , Lubieniecki Fabiana , Bailez Marcela , Rivarola Marco A. , Belgorosky Alicia , Berensztein Esperanza B.

Background: In Androgen insensitivity syndrome (AIS) is a hereditary disease in which AR mutations in 46,XY patients present with partial (PAIS) or complete (CAIS) defects in virilisation.Objective and hypotheses: The aim was to analyze the effect of lack of androgen action in germ cell (GC) health and survival along postnatal development, previous to Sertoli cell (SC) pubertal maturation.Method: The histological features and quant...

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ESPE Abstracts

Identification of ADAMTS6 as a Novel Candidate Gene for Idiopathic Short Stature with Advanced Bone Maturation

Early Loss of Germ Cells in Testis of Androgen Insensitivity Syndrome Patients

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