An International Delphi Based Study for Developing A Core Outcome Set For Hypospadias Surgery.

Introduction Explicit outcomes routinely measured across the life span following hypospadias surgery, defined by a core outcome set (COS), will harmonize and overcome reporting heterogeneity. Methods Age specific outcomes identified in a literature review were presented in a three round Delphi survey. Participants (professionals, parents and patients) were encouraged to suggest outcomes in the first Delphi round.

The Outcome of Ongoing Adult Endocrine Engagement Following Transition From Paediatric Care.

Objective: Transition is important for continuity of care for patients with chronic health conditions. The aim of this service evaluation was to determine the effectiveness of a transition clinic at a tertiary hospital with long-term attendance in the adult endocrine service.

Design: Retrospective case notes review of patients seen by paediatric endocrinology at the Royal Hospital for Children, Glasgow, at the time of transition to adult services, between 2012 and 2022.

Gonadal function and pathology in 17beta-HSD 3 and 5alpha-reductase deficiency.

Objective: 17β-Hydroxysteroid dehydrogenase 3 deficiency (17β-HSDD) and 5α-reductase type 2 deficiency (5α-RD) are rare 46,XY differences of sex development (DSD). This study aims to enlarge the limited knowledge on long-term gonadal function and gonadal pathology in these conditions.

Design: Retrospective multicentre cohort study.

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.

Sex differences in the cardiovascular effects of GnRH analogues.

The integral role of the hypothalamic-pituitary-gonadal axis in reproductive processes makes it a prime therapeutic target. By inhibiting sex steroid synthesis, gonadotropin-releasing hormone (GnRH) analogues are used in the management of cancers, benign neoplasms, infertility and gender dysphoria. However, the wide application of these therapeutics raises concerns regarding the unintended effects upon the cardiovascular system.

Presentation and outcomes of paediatric craniopharyngioma in the west of Scotland: a 25 year experience.

Purpose: Craniopharyngiomas can be aggressive leading to significant complications and morbidity. It is not clear whether there are any predictive factors for incidence or outcomes. Our aim was therefore to record the incidence, presentation, characteristics and progression of paediatric craniopharyngiomas in the West of Scotland.

Gonadal Function in Boys with Bilateral Undescended Testes.

Background: Bilateral undescended testes (BUDT) may be a marker of an underlying condition that affects sex development or maturation.

Aims: To describe the extent of gonadal dysfunction in cases of BUDT who had systematic endocrine and genetic evaluation at a single tertiary pediatric center.

Methods: A retrospective review was conducted of all boys with BUDT who had endocrine evaluation between 2008 and 2021 at the Royal Hospital for Children, Glasgow (RHCG).

Standardised practices in the networked management of congenital hyperinsulinism: a UK national collaborative consensus.

Congenital hyperinsulinism (CHI) is a condition characterised by severe and recurrent hypoglycaemia in infants and young children caused by inappropriate insulin over-secretion. CHI is of heterogeneous aetiology with a significant genetic component and is often unresponsive to standard medical therapy options. The treatment of CHI can be multifaceted and complex, requiring multidisciplinary input.

Thioredoxin Reductase 2 Variant as a Cause of Micropenis, Undescended Testis, and Selective Glucocorticoid Deficiency.

Introduction: Variants in genes that play a role in maintaining cellular redox homeostasis in adrenocortical cells may be associated with glucocorticoid deficiency, and it is unclear whether these cases may be associated with a wider phenotype. However, to date, only 1 case of a genetic variant in thioredoxin reductase type 2 (TXNRD2) in a South Asian kindred with familial glucocorticoid deficiency has been reported.

Case Presentation: The index case was diagnosed with selective glucocorticoid deficiency at 10 years of age.

Pharmacological modulation of vascular ageing: A review from VascAgeNet.

Vascular ageing, characterized by structural and functional changes in blood vessels of which arterial stiffness and endothelial dysfunction are key components, is associated with increased risk of cardiovascular and other age-related diseases. As the global population continues to age, understanding the underlying mechanisms and developing effective therapeutic interventions to mitigate vascular ageing becomes crucial for improving cardiovascular health outcomes. Therefore, this review provides an overview of the current knowledge on pharmacological modulation of vascular ageing, highlighting key strategies and promising therapeutic targets.

Predictors of surgical complications in boys with hypospadias: data from an internationa registry.

Background: Complications are frequently reported after hypospadias repair and there is a need to understand the factors that influence their occurrence.

Methods: Data from boys with hypospadias born between 2000 and 2020 were obtained from the International Disorders of Sex Development (I-DSD) Registry. Logistic regressions, fisher's exact tests and spearman's correlation tests were performed on the data to assess associations between clinical factors and complication rates.

Preventative interventions that target cardiovascular dysfunction in children and young people: a systematic review of their effectiveness and an investigation of sexual dimorphism.

Given that cardiovascular diseases remain a primary cause of mortality and morbidity, there is a need to consider preventative strategies to improve vascular function from early in life. The aims of this study were therefore to investigate which interventions may improve endothelial function, intima media thickness and arterial stiffness in children and young people and to assess whether these interventions differ in boys and girls. A systematic literature search of Science Direct, Pubmed, Google Scholar and the Cochrane Library by two independent reviewers was performed to source articles.

The effect of COVID-19 on the presentation of thyroid disease in children.

Introduction: Although studies suggest a potential link between COVID-19 and thyroid dysfunction in adults, there are insufficient data to confirm that association in children, and whether there is any effect on presentation to healthcare services.

Aims: To identify whether presentations of thyroid dysfunction in children to a tertiary paediatric hospital changed as a result of the COVID-19 pandemic.

Methods: A retrospective case note review was conducted of all children with abnormal thyroid function tests between 1 January 2016 and 31 December 2021 at a tertiary paediatric endocrine centre in the United Kingdom.

Androgens and Androgen Receptors as Determinants of Vascular Sex Differences Across the Lifespan.

Androgens, including testosterone and its more potent metabolite dihydrotestosterone, exert multiple actions in the body. Physiologically, they play a critical role in male sex development. In addition, they influence vascular function, including arterial vasodilation and mediation of myogenic tone.

Testicular Sertoli Cell Hormones in Differences in Sex Development.

The Sertoli cells of the testes play an essential role during gonadal development, in addition to supporting subsequent germ cell survival and spermatogenesis. Anti-Müllerian hormone (AMH) is a member of the TGF-β superfamily, which is secreted by immature Sertoli cells from the 8 week of fetal gestation. lnhibin B is a glycoprotein, which is produced by the Sertoli cells from early in fetal development.

Vascular dysfunction and increased cardiovascular risk in hypospadias.

Aims: Hypogonadism is associated with cardiovascular disease. However, the cardiovascular impact of hypogonadism during development is unknown. Using hypospadias as a surrogate of hypogonadism, we investigated whether hypospadias is associated with vascular dysfunction and is a risk factor for cardiovascular disease.

Delivery of multidisciplinary care in the field of differences and disorders of sex development (DSD).

Introduction: Differences and disorders of sex development (DSD) are a diverse group of conditions, which often present in early childhood and may require input from a group of experts in a wide range of clinical fields. Clinical guidance in this field recommends that these experts function as a multidisciplinary team (MDT) within which each expert has a defined role, which ensures an integrated and streamlined approach to the care of affected individuals.

Areas Covered: This review will focus on the benefits of multidisciplinary care for people with DSD, as well as the challenges that may be faced.