Scientific Programme & Abstracts from the International Meeting in Pediatric Endocrinology (IMPE)

impe0096p5 | Adrenals and HPA Axis | IMPE2023

Simple method for Mitotane determination in plasma samples by LC-DAD

Sylvia Ferreira Marques Anna , Nunciata Lopes Alves Atecla , Bilharinho Mendonca Berenice , Pantelilou Lima-Valassi Helena

Mitotane (o, P'–DDD) is the drug of choice for adrenocortical carcinomas (ACC) and its measurement in plasma is essential to control drug administration.Objective: To develop and validate a simple, reliable and straightforward method for Mitotane determination in plasma samples.Method: Drug free plasma samples were collected in potassium-ethylenediamine tetraacetate (K-EDTA) tub...

impe0096p144 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | IMPE2023

The Pre- and Postnatal Influence of Androgens in the Psychosexual Development of Classical Congenital Adrenal Hyperplasia due to 21-hydroxylase deficiency

Loch Batista Rafael , Inacio Marlene , Madureira Guiomar , Miranda Mirela , Gomes Larissa , Rodrigues Andresa , Funari Mariana , Bachega Tania , Bilharinho Mendonca Berenice

Introduction: Congenital Adrenal Hyperplasia (CAH) is a group of autosomal recessive disorders. Defects in the 21-hydroxylase (21OH) enzyme make up 90% of CAH. These defects result in androgen excess in salt-wasting or simple virilizing forms. As androgens play a role in human psychosexual development, this study was designed to evaluate the impact of androgens on the psychosexuality of individuals with CAH due to 21OH deficiency.<strong...

impe0096p139 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | IMPE2023

Clinical, Psychological, and Molecular Aspects of a Large Androgen Insensitivity Syndrome Cohort

Loch Batista Rafael , Inacio Marlene , Caroline Afonso Ane , Carvalho Filomena , Ramos Raquel , Craveiro Flora , Dallago Renata , Tereza Ferrari Maria , Batatinha Julio , Nishi Miriam , Domenice Sorahia , Bilharinho Mendonca Berenice

Introduction: Androgen Insensitivity Syndrome (AIS) is the most common cause of the 46,XY Differences in Sexual Development (DSD). It is an X-linked genetic disease caused by allelic variants in the Androgen Receptor Gene (Xq11-12). Methods: Patients with clinical suspicion of AIS performed hormonal serum analysis (LH, FSH, estradiol, testosterone) and whole AR gene sequencing. Psychosexual variables (gender identity, gender role, and sexual orientation) were ...