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hrp0095p1-373 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

A novel Androgen Receptor mutation causes complete androgen receptor insensitivity syndrome with gender dysphoria and unusual postnatal androgen profile.

Cohen Amitay , Florsheim Nathan , Levy-Lahad Efrat , Eliyahu Mendelsohn Espen , Lavi Eran , Kerem Liya , Abu Libdeh Abdulsalam , Zangen David

Background: Androgen Insensitivity syndrome (AIS), the most common cause of XY DSD, is an X-linked recessive allelic disorder caused by Androgen Receptor (AR) gene mutations. The complete form (CAIS) stems from abrogation of AR activity and is characterized by an external female phenotype and scarce pubic hair, as well as lack of Mullerian structures. Postnatal gonadotropin and testosterone levels are not increased, and the classical ‘Mini-puberty’...

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hrp0097fc3.3 | Fat, metabolism and obesity 1 | ESPE2023

Frequency of Obesity-Related Gene Variants in a European Population With Early-Onset, Severe Obesity

W. le Roux Carel , Dominguez-Riscart Jesus , Rosaria Licenziati Maria , Soriano-Guillén Leandro , Haliloglu Belma , Zalin Anjali , Filomena Madeo Simona , Sleiman Patrick , Savoie Charles , Kerem Liya , Argente Jesús

Background: Patients with genetic variants in the melanocortin-4 receptor (MC4R) pathway may present with early-onset, severe obesity and hyperphagia. Increasing awareness of genetic testing could improve diagnosis of rare genetic causes of obesity and identify patients who might benefit from targeted therapy; however, such testing has been limited. Moreover, the frequency of specific genetic variants in this population is currently unknown. The Rare Obesity A...

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ESPE Abstracts

A novel Androgen Receptor mutation causes complete androgen receptor insensitivity syndrome with gender dysphoria and unusual postnatal androgen profile.

Frequency of Obesity-Related Gene Variants in a European Population With Early-Onset, Severe Obesity

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