Gender-affirming hormone therapy: effects on cardiovascular risk and vascular function.

Background: Gender-affirming hormone therapy (GAHT) is used in individuals with gender identity dysphoria to align an individual's secondary sexual characteristics with their affirmed gender. We conducted a systematic review of the literature to explore the mechanisms regarding the effects of GAHT on the vasculature.

Methods: A literature search using PUBMED, Embase, Scopus and Lilacs was performed using search terms for GAHT, cardiovascular disease (CVD) risk and transgender.

Gynecomastia and Its Management In Boys With Partial Androgen Insensitivity Syndrome.

Introduction: Partial androgen insensitivity syndrome (PAIS) is a rare condition that is reported to be commonly associated with gynecomastia in males.

Objectives: To assess the management of gynecomastia in male PAIS.

Materials And Methods: Retrospective review of males with PAIS over the age of 10 years in the I-DSD registry.

Prader-Willi syndrome: guidance for children and transition into adulthood.

Prader-Willi syndrome (PWS) is a rare orphan disease and complex genetic neurodevelopmental disorder, with a birth incidence of approximately 1 in 10,000-30,000. Management of people with PWS requires a multi-disciplinary approach, ideally through a multi-disciplinary team (MDT) clinic with community support. Hypotonia, poor feeding and faltering growth are characteristic features in the neonatal period, followed by hyperphagia and risk of rapid weight gain later in childhood.

Bone biochemistry in children with fractures presenting with non-accidental injury.

Background: In cases of fractures in children with suspicion of non-accidental injury (NAI), biochemical markers of calcium homeostasis should be performed.

Objectives: To describe the pattern of biochemistry in children with fractures NAI is suspected.

Participants And Setting: Children ≤2 years of age who had undergone a skeletal survey as part of a child protection investigation where 1/+ fracture was identified over a ten-year period (2012-2021) at the Royal Hospital for Children, Glasgow.

SEC31A may be associated with pituitary hormone deficiency and gonadal dysgenesis.

Purpose: Disorders/differences of sex development (DSD) result from variants in many different human genes but, frequently, have no detectable molecular cause.

Methods: Detailed clinical and genetic phenotyping was conducted on a family with three children. A Sec31a animal model and functional studies were used to investigate the significance of the findings.