Impact of transsexualizing process centers on self-medication of transgender individuals.

Objective: The transgender population in Brazil faces marginalization and difficulties in accessing education and health, leading many individuals to self-medicate. This study aimed to evaluate the impact of the implementation of Specialized Centers in the Transsexualizing Process (SCTP) on the use of cross-sex hormone therapy (CSHT) without medical prescription, as well as the level of education and mental health profile of these individuals.

Methods: This is a cross-sectional study with data from physical and electronic medical records between September 2017 and February 2023 regarding the use of CSHT before and after the implementation of two SCTP in the state of Bahia, Brazil, in addition to data on education level, previous diagnosis of anxiety and depression of patients.

Variants in 46,XY DSD-Related Genes in Syndromic and Non-Syndromic Small for Gestational Age Children with Hypospadias.

Hypospadias is a common congenital disorder of male genital formation. Children born small for gestational age (SGA) present a high frequency of hypospadias of undetermined etiology. No previous study investigated the molecular etiology of hypospadias in boys born SGA using massively parallel sequencing.

A Small Supernumerary Xp Marker Chromosome Including Genes NR0B1 and MAGEB Causing Partial Gonadal Dysgenesis and Gonadoblastoma.

Copy number variations of several genes involved in the process of gonadal determination have been identified as a cause of 46,XY differences of sex development. We report a non-syndromic 14-year-old female patient who was referred with primary amenorrhea, absence of breast development, and atypical genitalia. Her karyotype was 47,XY,+mar/46,XY, and FISH analysis revealed the X chromosome origin of the marker chromosome.

A 46,XX testicular disorder of sex development caused by a Wilms' tumour Factor-1 (WT1) pathogenic variant.

Molecular diagnosis is rarely established in 46,XX testicular (T) disorder of sex development (DSD) individuals with atypical genitalia. The Wilms' tumour factor-1 (WT1) gene is involved in early gonadal development in both sexes. Classically, WT1 deleterious variants are associated with 46,XY disorders of sex development (DSD) because of gonadal dysgenesis.

Long-term outcomes and molecular analysis of a large cohort of patients with 46,XY disorder of sex development due to partial gonadal dysgenesis.

Background: Follow-up data on patients with 46,XY partial gonadal dysgenesis (PGD) until adulthood are scarce, making information on prognosis difficult.

Objective: To analyse the long-term outcomes of patients with 46,XY PGD regarding testosterone production, germ cell tumour risk, genotype and psychosexual adaptation.

Methods: A retrospective longitudinal study of 33 patients (20 assigned male and 13 patients assigned female at birth).