Turner syndrome growth hormone

OBJECTIVE: Treatment adherence is crucial for the success of growth hormone (GH) therapy. Reported nonadherence rates in GH treatment have varied widely. Several factors may have an impact on adherence. Apart from these factors, the global impact of the COVID-19 pandemic, including problems with hospital admission and routine follow-up of patients using GH treatment, may have additionally affected the adherence rate. The primary objective of this study was to investigate adherence to treatment in patients receiving GH...

CONTEXT: Patients with Turner Syndrome often present with short stature and ovarian insufficiency. The optimal method of pubertal induction to maximize adult height (AH) is unknown. OBJECTIVE: To identify variables related to pubertal induction that are associated with growth and AH. DESIGN & SETTING: Retrospective cohort analysis of patients attending a specialized Turner Syndrome clinic at a quaternary children's hospital. PATIENTS: Patients with Turner Syndrome (n=107) who attended the clinic between 2015 and 2021...

Turner syndrome (TS) is one of the most common sex chromosomal abnormalities affecting girls and women. Diagnosis of this condition can be delayed due to a variation in clinical presentation, although an early age at diagnosis is important for several reasons. It enables psychosocial support for girls and their parents; early initiation of growth hormone therapy; puberty induction at an appropriate age; early recognition of comorbidities, such as cardiac or renal abnormalities; and timely removal of the gonads in girls with Y-chromosomal material, who are at risk for gonadoblastoma...

Noonan syndrome is a genetic, developmental disorder characterized by facial deformities, congenital heart defects, webbed neck, wide space nipples, and growth hormone deficiencies. We report a case of a 15-year-old female patient who presented to the outpatient department with recurrent puffiness of both eyes, easy fatiguability, and dyspnea on exertion. The condition was associated with bilateral proximal muscular weakness of lower limbs with positive Gower's sign. On examination, the patient had a webbed neck, hypertelorism, a shielded chest, short stature, and a high-arched palate...

Objective: To investigate the clinical and genetic characteristics of children with 45, X/46, XY mosaicism. Methods: The retrospective study included 20 children diagnosed with 45, X/46, XY and 45, X/46, X,+mar mosaicism in the First Affiliated Hospital of Zhengzhou University from 2018 to 2022. The clinical features, gonadal pathology, treatment and follow-up were summarized. Genetic tests were performed by SRY gene test, azoospermia factor region (AZF) deletion test, copy number variation-sequencing (CNV-seq)...

BACKGROUND: Turner syndrome (TS) is a common chromosomal abnormality, which is caused by loss of all or part of one X chromosome. Hormone replacement therapy in TS is important in terms of puberty, growth and prevention of osteoporosis however, such a study has never been conducted in Korea. Therefore, the purpose of our study was to determine relationship between the starting age, duration of estrogen replacement therapy (ERT) in TS and develop a hormone replacement protocol suitable for the situation in Korea...

PURPOSE: Turner syndrome (TS) is the most common sex chromosomal abnormality found in female subjects. It is a result of a partial or complete loss of one of the X chromosomes. Short stature is a hallmark of TS. Attainment of adult height (AH) within the normal range for height within the general female population represents the usual long-term goal of growth hormone (GH) treatment. The aim of this systematic review was to understand the efficacy of GH therapy on AH of patients with TS...

INTRODUCTION: Patients with Turner syndrome (TS) often face skeletal and muscular challenges, including reduced bone mineral density (BMD) and muscle weakness. This comprehensive study sheds light on the complex interplay between muscle strength, BMD, and metabolic and endocrine parameters in TS and healthy subjects. METHODS: A cross-sectional study involving 42 TS patients and 70 healthy women was conducted. All patients had their BMD determined in the L1-L4 lumbar spine section and in the whole skeleton as well as the parameters of body fat mass (BF), and visceral fat mass (VF) were also determined...

OBJECTIVE: To determine the cardio-metabolic risk of adolescents and adults with Turner Syndrome (TS) and find whether and how anthropometry and body composition predicts this risk METHODS: We compared anthropometric, biochemical, and dual-energy-X-ray-absorptiometry-(DXA)-derived body-composition parameters of 103 girls with TS (aged 12 - 30 years) and 103 controls of same age and BMI; between TS with and without Metabolic Syndrome (MetS), between the different karyotypes of TS and between growth hormone (GH)-recipients and non-recipients...

CONTEXT: Most individuals with Turner syndrome (TS) require estrogen for pubertal induction. Current estrogen dosing guidelines are based on expert consensus opinion. OBJECTIVE: Evaluate if current international guidelines for estrogen dosing during pubertal induction of individuals with TS result in normal uterine growth. We hypothesized that uterine size in individuals with TS who reached adult estrogen dosing is smaller than in mature females without TS. DESIGN: Cross-sectional study...

45,X/46,XY chromosomal mosaicism presents a range of clinical manifestations, including phenotypes from Turner syndrome through genital abnormalities to apparently unaffected phenotypic males; however, the full clinical spectrum has not yet been fully delineated since prior studies on the clinical phenotype and associated risk of gonadal tumors included small cohorts and limited follow-up. To better describe the clinical manifestations and long-term outcome of patients with 45,X/46,XY mosaicism. We conducted a retrospective chart review of patients with 45,X/46,XY from three health centers (Hospital for Sick Children and Mount Sinai Hospital in Canada, and University of Pittsburgh Medical Center in United States)...

BACKGROUND: Individuals with Turner syndrome (TS) have a high risk for prediabetes/type 2 Diabetes Mellitus (T2DM). There is scarce data regarding risk factors for prediabetes in TS, specially from South Asia. METHODS: We conducted a cross-sectional study on girls with TS aged 12-30 years who had achieved pubertal stage B3 and above-spontaneously or with oestrogen. Anthropometric measurements and biochemical tests were conducted, and medical records were reviewed for details about pubertal onset and progression, growth hormone (GH) and oestrogen therapy...

As we continue to understand more about the complex mechanism of growth, a plethora of novel therapies have recently been developed that aim to address barriers and optimize efficacy. This review aims to explore these novel therapies and provide a succinct review based on the latest clinical studies in order to introduce clinicians to therapies that will soon constitute the future in the field of short stature.  Conclusion: The review focuses on long-acting growth hormone formulations, a novel growth hormone oral secretagogue, novel treatments for children with achondroplasia, and targeted therapies for rare forms of skeletal dysplasias...

Osteoporosis is a serious implication of Turner syndrome (TS). Common methods for the treatment of TS are growth hormone (GHT) and estrogen replacement therapy (ERT). We examined the relationship between the treatment of TS and bone mineral density (BMD) of the lumbar spine. The purpose of our study was to show the currency of BMD states among patients with TS for treatment with GHT and ERT. We searched databases for studies published from inception to April 2023. The articles were related to TS, osteoporosis, ERT, GHT, BMD and treatment patients with TS...

The association of coeliac disease (CD) in girls with Turner syndrome (TS) is well described. There is, however, a paucity of current research describing TS in patients with known CD. We report two cases of mosaic Turner syndrome diagnosed in girls with CD who failed to achieve expected catch-up growth despite strict adherence to a gluten-free diet (GFD) and the normalisation of TGA-IgA levels. We highlight the need to consider additional diagnoses in patients with CD and ongoing faltering growth. In such patients, referral to a paediatric endocrinologist and relevant investigations, including genetic investigations, should be considered if growth remains suboptimal after one year with a GFD...

Growth hormone (GH) is a peptide hormone that plays a crucial role in controlling growth, development, and lifespan. Molecular regulation of GH is accomplished via the GH receptor ( GHR ), which is the main factor influencing human development and is essential to optimal functioning of the GH/IGF-I axis. Two GHR isoforms have been studied, according to the presence (flGHR) or absence (d3GHR) of exon 3. The d3GHR isoform, which lacks exon 3 has recently been related to longevity; individuals carrying this isoform have higher receptor activity, improved signal transduction, and alterations in the treatment response and efficacy compared with those carrying the wild type (WT) isoform (flGHR)...

CONTEXT: Turner syndrome (TS) is the most common chromosomal aberration in women; it is the result of structural or numeric abnormalities in the X chromosome. Autoimmune hypothyroidism has been recognized as one of the more prominent disorders associated with TS. OBJECTIVE: To study the prevalence of autoimmune diseases in TS. DESIGN AND SETTING: A cross sectional, longitudinal, 25-year follow-up study of patients from adult Turner Centers at the University Hospitals, Sweden...

INTRODUCTION: There is a lack of Indian data on short stature treatment using recombinant human growth hormone (rhGH). We explored the effects of such treatment in eastern Indian patients, with emphasis on biochemical parameters and bone biomarkers in addition to basic anthropometry. METHODS: Our descriptive study covered 50 short stature patients of varied aetiology attending endocrine outpatient department (OPD) of a tertiary care teaching hospital. Patients were followed up for 1 year after the index visit, and prospective data were reconciled with past medical records...

BACKGROUND AND OBJECTIVES: Owing to paucity of data on adult height in Indian girls with Turner syndrome treated with growth hormone (GH), this study was conducted to assess improvement in height following GH therapy and adult height achieved with long-term GH therapy in Indian girls with Turner syndrome and to assess relationship between achieved and predicted height. METHODOLOGY: Retrospective analysis was performed on 12 girls with karyotype-proven Turner syndrome, who had attained adult height following mean duration of GH therapy of 4...

Familial short stature (FSS) describes vertically transmitted growth disorders. Traditionally, polygenic inheritance is presumed, but monogenic inheritance seems to occur more frequently than expected. Clinical predictors of monogenic FSS have not been elucidated. The aim of the study was to identify the monogenic etiology and its clinical predictors in FSS children. Of 747 patients treated with growth hormone (GH) in our center, 95 with FSS met the inclusion criteria (pretreatment height ≤-2 SD in child and his/her shorter parent); secondary short stature and Turner/Prader-Willi syndrome were excluded criteria...