ESPE Abstracts

Background: Sequencing of Primary Ovarian Insufficiency (POI) cohorts have identified variants in >100 “POI genes” in up to 50% of women. Establishing pathogenicity of these variants is challenging. Whether early-onset POI (EO-POI; adolescent-onset) has a unique genetic profile remains unknown.Methods: We performed exome sequencing (Nonacus) in an EO-POI cohort (sporadic and familial) and unaffected family...

Introduction: The Androgen Receptor (AR) is a steroid hormone receptor. Upon activation by its potent ligand, 5-alpha-dihydrotestosterone (DHT), it regulates the expression of target genes leading to the development of the outer male genitalia. Mutations in the AR gene are associated with Androgen Insensitivity Syndrome (AIS), characterized by the presence of testes and varying degrees of undervirilization of the external genitalia. Since many individ...

Background: Paracetamol is the preferred analgesic and antipyretic during pregnancy. Experimental studies suggest that in-utero exposure to paracetamol disrupts ovarian follicle formation and future ovarian function. This may secondarily affect uterine growth. Female minipuberty is characterized by HPG activity and follicle maturation, however individual levels of reproductive hormones fluctuate considerably.Primary Aim:...

Background: Paracetamol is bought over the counter and frequently used by pregnant women. Studies suggest that paracetamol is endocrine-disruptive, affecting for example germ cell proliferation. Fetal male masculinization is initiated in early gestation (GW 8-14).Primary aim: To assess if prenatal exposure to paracetamol was associated with testicular function.Design: Prospective, ...

Context: Skeletal dimensions vary between sexes. Men typically have broader shoulders while women have a wider pelvis. It remains unclear to what extent gender affirming hormone therapy (GAHT) with or without prior puberty suppression (PS) can alter these dimensions in transgender individuals.Methods: Transgender individuals assigned male at birth (AMAB) and assigned female at birth (AFAB) were included in this retrospec...

Background: Gender identity (GI) is the unified and persistent self-perception on the male-female spectrum, and its acquisition is a multifactorial process maybe influenced also by minipuberty. GI develops in early childhood and is consolidated around 3-4 years. Several tests assess GI as the Gender Identity Questionnaire for Children (GIQC). GIQC is intended for parents and aims to assess GI in both clinical and non-clinical populations. Aim of the research i...