Turner syndrome growth hormone

Turner syndrome (TS) is a relatively common chromosomal disorder characterized by short stature, ovarian failure, and multiple congenital anomalies. Xp deletion is rarely reported as an etiology of TS, and in most cases, the characteristic features are lacking. Therefore, we present a case of a 33-month-old girl who was admitted due to a developmental delay: she had short stature and Müllerian agenesis. We used a chromosomal microarray and confirmed Xp22.33-p11.3 deletion and 7p22.3-q11.21 duplication...

Turner syndrome (TS) is a genetic condition that affects only girls and women, leading to health issues including infertility. Patients usually require recombinant growth hormone, and sex hormone therapy. Based on our anthropological research in Poland, we posit questions regarding the management of societal expectations by female parents regarding the femininity of their daughters, especially within the context of infertility. We query: Is it possible to understand TS and its consequences as not only being an obstacle to future plans, but also having emancipatory potential? To answer this question, we refer to the concept of hope and analyze the interpretative work of mothers of girls with TS...

Turner syndrome (TS) is a chromosomal disorder affecting female and characterized by complete or partial monosomy of the X chromosome. These genetic changes lead to the abnormalities in growth and development and increase the risk of autoimmune diseases, including those affecting the thyroid. Thyroid pathology in TS may include autoimmune thyroiditis, hypothyroidism, thyrotoxicosis (Graves disease, AIT in the hyperthyroid state).Thyrotoxicosis is the clinical syndrome of excess circulating thyroid hormones...

Clinical practice guidelines for individuals with Turner syndrome (TS) recommend screening for neuropsychological concerns (NC) and mental health concerns (MHC). However, current provider screening and referral patterns for NC and MHC are not well characterized. Additionally, prevalence of and risk factors for NC and MHC vary across studies. This multicenter chart review study examined the prevalence, risk factors for, and management of NC and MHC in a cohort of 631 patients with TS from three pediatric academic medical centers...

BACKGROUND: Turner syndrome and β-thalassemia very rarely occur together in an individual. CASE PRESENTATION: An Indonesian adolescent, 18 years old, complained is fatigue a week ago. She has a medical history of β-thalassemia for age 6 months and Turner syndrome identification for age 16 years. Meanwhile, she regular consumes deferasirox 500 mg every day. Physical examination showed pale conjunctiva and pale face. Body view similar children aged 13 years old...

PURPOSE: The purpose of this study was to develop and validate a clinical predictive model for predicting the likelihood of a poor therapeutic response during the first year of recombinant human growth hormone (rhGH) treatment in children with growth disorders. METHODS: A total of 627 pediatric patients with growth disorders (GHD, ISS, TS, SGA) from The LG Growth Study cohort were evaluated. Restricted cubic splines (RCS) were utilized to investigate the association between predictors and the risk of poor rhGH response...

BACKGROUND: Although it cannot be predicted accurately which young females will develop premature ovarian insufficiency (POI) following chemotherapy or irradiation, patients at high risk of POI should be offered ovarian tissue cryopreservation (OTC). Our ovarian tissue cryobank is the first center in China. OTC was firstly performed on a 3-year-old girl with mosaic Turner syndrome (TS) in China. We report this case and present a literature review about TS girls' fertility preservation (FP)...

Turner syndrome (TS) is a congenital chromosomal abnormality that affects approximately 1 in 2,500 people. Both in China and abroad, few studies exist on the incidence of tumors in patients with TS. Most reported cases are complicated with gonadal germ cell tumors, and extragonadal tumors are rare, with the latter not yet being reported in China. Through chromosome karyotype analysis and surgical exploration, a pediatric patent was diagnosed with TS complicated with gonadoblastoma and adrenal neuroblastoma...

Females belonging to the reproductive age group may face challenges regarding infertility or miscarriage due to conditions such as premature ovarian failure (POF). It is the condition that happens when a female's ovaries stop working before she is 40. The majority of the causes of POF cases are idiopathic. Other reasons include genetic disorders (Turner's syndrome, bone morphogenetic protein 15 ( BMP15 ) mutation, galactosemia, mutation of forkhead box protein L2 ( FOXL2 ), growth differentiation factor-9 ( GDF9 ), mutation of luteinizing hormone (LH) and follicle-stimulating hormone receptors ( FSHR ), etc...

BACKGROUND: Women with Turner syndrome (TS) have an increased risk of aortic dissection. The current recommended cutoff to prevent aortic dissection in TS is an aortic size index (ASI) of ≥2.5 cm/m2 . This study estimated which aortic size had the best predictive value for the risk of aortic dissection, and whether adjusting for body size improved risk prediction. METHODS: A prospective, observational study in Sweden, of women with TS, n = 400, all evaluated with echocardiography of the aorta and data on medical history for up to 25 years...

Noonan, Turner, and Prader-Willi syndromes are classical genetic disorders that are marked by short stature. Each disorder has been recognized for several decades and is backed by extensive published literature describing its features, genetic origins, and optimal treatment strategies. These disorders are accompanied by a multitude of comorbidities, including cardiovascular issues, endocrinopathies, and infertility. Diagnostic delays, syndrome-associated comorbidities, and inefficient communication among the members of a patient's health care team can affect a patient's well-being from birth through adulthood...

Background: Many primary and secondary disorders disturb growth and cause short stature (height below -2 SDS) in childhood. Growth monitoring programs aim at their early detection but are not evidence-based: epidemiology of childhood growth disorders is poorly characterized, and no consensus exists on priority target conditions. Herein, we describe population-based epidemiological data on several primary and secondary growth disorders associated with short stature in childhood. Materials and Methods: This retrospective population-based 20-year birth cohort study examined 1 144 503 children (51% boys) born in Finland between 1998 and 2017, with 16...

OBJECTIVES: We aimed to report our 10-year experience of treating short children born small for gestational age (SGA) by comparing the long-term growth, metabolic safety, and cost-effectiveness of recombinant human growth hormone (rhGH) therapy in short children born SGA with those in rhGH-treated children with growth hormone deficiency (GHD) and Turner syndrome. METHODS: We performed a 10-year retrospective cohort study at King Saud University Medical City. We included children aged 3-16 years who received rhGH for GHD, SGA, or Turner syndrome for >1 year...

BACKGROUND: Premature ovarian insufficiency (POI) is a clinical syndrome resulting from loss of ovarian function before the age of 40. It is a state of hypergonadotropic hypogonadism, characterised by amenorrhoea or oligomenorrhoea, with low ovarian sex hormones (oestrogen deficiency) and elevated pituitary gonadotrophins. POI with primary amenorrhoea may occur as a result of chromosomal and genetic abnormalities, such as Turner syndrome, Fragile X, or autosomal gene defects; secondary amenorrhoea may be iatrogenic after the surgical removal of the ovaries, radiotherapy, or chemotherapy...

CONTEXT: The Kabi/Pfizer International Growth Database (KIGS) is a large, international database (1987-2012) of children treated with recombinant human growth hormone (rhGH) in real-world settings. OBJECTIVE: This work aimed to evaluate the safety and efficacy of rhGH from the full KIGS cohort. METHODS: Data were collected by investigators from children with growth disorders treated with rhGH (Genotropin [somatropin]; Pfizer). Safety was evaluated in all treated patients, and efficacy in those treated for 1 year or more...

Bone age (BA) is a clinical marker of bone maturation which indicates the developmental stage of endochondral ossification at the epiphysis and the growth plate. Hormones that promote the endochondral ossification process include growth hormone, insulin-like growth factor-1, thyroid hormone, estrogens, and androgens. In particular, estrogens are essential for growth plate fusion and closure in both sexes. Bone maturation in female children is more advanced than in male children of all ages. The promotion of bone maturation seen in females before the onset of puberty is thought to be an effect of estrogen because estrogen levels are higher in females than in males before puberty...

A 10-year-old female with cystic fibrosis (CF), diagnosed by newborn screen, and pancreatic insufficiency was referred by gastroenterology to endocrinology for short stature (Z-score -3.5 SD). She had poor growth velocity and delayed bone age, although stunting of her growth was evident by age 6 years. Her karyotype was consistent with Turner syndrome (45,X). Growth hormone therapy has improved her growth velocity; she is tolerating it without side effects. At 12 years old, she has delayed puberty due to primary ovarian failure and will initiate estrogen replacement...

Assessing weight and height development is a key element of pediatric follow-up. Growth retardation, even in isolation, may be the first symptom of a chronic disease and should therefore always be investigated. Many chronic diseases can be responsible and in most cases, diagnosis and management of the disease will minimize the impact on statural growth. The reconstruction of growth curves on the health record is essential to obtain a vision of the growth kinetics of the child and to orient the diagnosis. The study of the evolution of the ratio between weight and height is an essential point in the diagnostic process...

Growth hormone (GH) is an injectable medication originally used to replace the deficiency of the hormone, but has expanded to treating conditions that may reduce growth and adult height even when the body maintains endogenous GH production. In the United States, there are 8 Food and Drug Administration (FDA)-approved indications for pediatric GH therapy: GH deficiency, Prader-Willi Syndrome, small for gestational age (SGA) without catch-up growth, idiopathic short stature, Turner syndrome, SHOX gene haploinsufficiency, Noonan Syndrome, and chronic renal insufficiency...

Turner syndrome is the most common sex chromosome abnormality in women. Infertility and short stature are the most striking findings seen in these patients. Unfortunately, many girls are still being diagnosed too late and therefore early diagnosis and treatment key. Turner syndrome affects many systems of the body; therefore, a comprehensive approach is key for therapeutic intervention.