Trends In Reported Outcomes For Growth Hormone Therapy In Children With Growth Hormone Deficiency.

Objective: To understand the frequency and trends in reported outcomes of safety and effectiveness for recombinant human growth hormone (rhGH) therapy for growth hormone deficiency (GHD) in childhood.

Methods: A systematic review was performed in seven English and Chinese language databases. Eligibility criteria included all studies published between 2003 and 2022, with participants who started rhGH before the age of 16 years for GHD.

A systematic review of core outcomes reported in boys and men with Klinefelter syndrome.

Purpose: Klinefelter syndrome (XXY) has a wide range of presentations and health consequences. The aim of this systematic review was to identify potential core outcomes reported in males with XXY.

Methods: Systematic searches of PubMed, Science Direct, and Cochrane were performed to source studies.

Development of a Minimum Dataset for the Global Monitoring of the Safety and Efficacy of Growth Hormone Replacement in Adults With Growth Hormone Deficiency (AGHD).

Objective: To identify the minimum dataset (MDS) for the monitoring of safety and effectiveness of GH in adults with growth hormone deficiency (AGHD).

Design: Systematic review and expert consensus.

Methods: Outcomes for AGHD were identified through a systematic literature search in PubMed, Science Direct and Cochrane.

Cardiometabolic outcomes of early onset hypogonadism in males.

Testosterone is an important vascular hormone, with multiple effects reported on the vasculature. As such, boys and men with early onset hypogonadism may have altered cardiovascular function, with the potential to result in adverse cardiometabolic outcomes in adulthood. Given the fact that cardiovascular changes in the young can affect future cardiovascular health, there is a need to better understand the influence of androgens on the vasculature in those with conditions such as 46, XY Disorders of Sex Development and Klinefelter Syndrome.

Phenotypic Variation and Pubertal Outcomes in Males and Females with 46,XY Partial Gonadal Dysgenesis.

Background: 46,XY gonadal dysgenesis is classified as complete (CGD) or partial (PGD) subtypes. The phenotype of PGD and the long-term outcome is not clearly defined.

Objective: To evaluate clinical features and pubertal outcome of PGD in a large cohort, using CGD as a comparator for diagnostic clarity.

ROS scavengers and genital skin healing in boys with hypospadias.

Introduction: Hypospadias repair is associated with high complication rates. Vascular cells from boys with hypospadias have increased reactive oxygen species (ROS) compared to controls. It is not clear if ROS affects wound healing in hypospadias.

Reassessing Pancreatectomy in Diffuse Congenital Hyperinsulinism: A Tale of 2 Brothers With Homozygous Variants.

Congenital hyperinsulinism (CHI) is a rare but serious disorder characterized by a dysregulated increase in insulin secretion, leading to hypoglycemia. Existing literature on CHI highlights the importance of early recognition and maintenance of blood glucose levels, due to the risk of neurological damage posed by uncorrected hypoglycemia. The cases presented highlight the treatment of 2 brothers who developed neonatal hypoglycemia due to diffuse CHI resulting from homozygous variants.

New Horizons in Klinefelter Syndrome: Current Evidence, Gaps, and Research Priorities.

Klinefelter syndrome (KS) is caused by the presence of a supernumerary X chromosome (conferring the classical 47,XXY karyotype) and is the most common sex chromosome abnormality in men. The clinical features described in the early characterization of the syndrome include tall stature, small testes, hypogonadism, gynecomastia, and neurodevelopmental deficits. However, the syndrome presents a broad phenotypic spectrum that seems to be evolving, along with environmental and general health changes.

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.