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Constitutional Short Stature

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41. A DWARF MUTATION IN THE RABBIT : THE CONSTITUTIONAL INFLUENCE ON HOMOZYGOUS AND HETEROZYGOUS INDIVIDUALS (Full text)

. In heterozygous animals, the function of the organ is altered, producing an undersized individual. The modifying factors of the cretinoid line act either to partially remove the inhibition or to alter the constitution of the animal so that life is possible for a short period without the full complement of pituitary hormones. (...) A DWARF MUTATION IN THE RABBIT : THE CONSTITUTIONAL INFLUENCE ON HOMOZYGOUS AND HETEROZYGOUS INDIVIDUALS An hereditary type of dwarfism in the rabbit has been described. In contrast to the dwarfs described in other animals, this type is evident at birth and conforms to the classification, nannosomia primordialis, as used in human pathology. In homozygous form the variation is lethal and produces a miniature individual approximately one-third the size of its normal sibs. Heterozygous animals

1940 The Journal of experimental medicine PubMed abstract

42. Low Incidence of Pathology Detection and High Cost of Screening in the Evaluation of Asymptomatic Short Children. (Full text)

% with familial short stature, 41% with constitutional delay of growth and maturation, and 36% with idiopathic short stature. The incidence of newly diagnosed pathology was 1.3%: 1 patient with biopsy-proved celiac disease, 1 with unconfirmed celiac disease, and 1 with potential insulin-like growth factor I receptor defect. On average, each patient had 64.3% of the recommended tests for age and sex; 2.1% of patients had all of the recommended testing. The total screening tests costs were $315321, yielding (...) Low Incidence of Pathology Detection and High Cost of Screening in the Evaluation of Asymptomatic Short Children. To determine the incidence of pathology during routine screening of healthy short children, testing adherence to a consensus statement on the diagnosis and treatment of children with idiopathic short stature, and the cost per identified diagnosis resulting from comprehensive screening.Retrospective chart review of 1373 consecutive short stature referrals evaluated at the Cincinnati

2013 Journal of Pediatrics PubMed abstract

43. A double-blind, placebo-controlled comparison of letrozole to oxandrolone effects upon growth and puberty of children with constitutional delay of puberty and idiopathic short stature. (Abstract)

A double-blind, placebo-controlled comparison of letrozole to oxandrolone effects upon growth and puberty of children with constitutional delay of puberty and idiopathic short stature. Constitutional delay of growth and puberty (CDGP) with short stature is one of the most common problems in pediatrics. We compared the effects of letrozole with that of oxandrolone on predicted adult height (PAH), puberty, bone mineral density, serum insulin-like growth factor 1 (IGF-1) and blood lipoproteins.In (...) a prospective, double-blind, randomized, placebo-controlled clinical trial, 91 CDGP boys (12.6-14.6 years old) with predicted short stature were treated with letrozole (2.5 mg/day), oxandrolone (2.5 mg/day), or placebo, at the outpatient pediatric endocrine clinic of Mofid Children's Hospital in Tehran for 2 years.Letrozole differed from oxandrolone and placebo in significantly increasing PAH (p < 0.05), and slightly but significantly decreasing HDL-cholesterol. Oxandrolone, and to a lesser degree letrozole

2010 Hormone research in paediatrics Controlled trial quality: uncertain

44. Vertebral morphology in aromatase inhibitor-treated males with idiopathic short stature or constitutional delay of puberty. (Abstract)

Vertebral morphology in aromatase inhibitor-treated males with idiopathic short stature or constitutional delay of puberty. Aromatase inhibitors (AIs), blockers of estrogen biosynthesis, delay bone maturation and therefore are used increasingly to promote growth in children and adolescents with growth disorders. The effects of treatment on skeletal health are largely unknown. Since estrogen deficiency is associated with various detrimental skeletal effects, we evaluated in this cross-sectional (...) posttreatment study vertebral body morphology, dimensions and endplates, and intervertebral disks by the use of magnetic resonance imaging (MRI) in two cohorts of males previously treated with the AI letrozole or placebo. Males with idiopathic short stature received treatment with letrozole or placebo for 2 years during prepuberty or early puberty; males with constitutional delay of puberty received letrozole or placebo in combination with low-dose testosterone for 1 year during early or midpuberty

2010 Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research Controlled trial quality: uncertain

45. Novel Inactivating Mutations in the Growth Hormone Secretatogue Receptor Gene (GHSR) in Patients with Constitutional Delay of Growth and Puberty. (Full text)

Novel Inactivating Mutations in the Growth Hormone Secretatogue Receptor Gene (GHSR) in Patients with Constitutional Delay of Growth and Puberty. A limited number of mutations in the GH secretagogue receptor gene (GHSR) have been described in patients with short stature. Objective To analyze GHSR in idiopathic short stature (ISS) children including a subgroup of constitutional delay of growth and puberty (CDGP) patients.The GHSR coding region was directly sequenced in 96 independent patients (...) with ISS, 31 of them with CDGP, in 150 adults, and in 197 children with normal stature. The pharmacological consequences of GHSR non-synonymous variations were established using in vitro cell-based assays.Five different heterozygous point variations in GHSR were identified (c.-6 G>C, c.251G>T (p.Ser84Ile), c.505G>A (p.Ala169Thr), c.545 T>C (p.Val182Ala), and c.1072G>A (p.Ala358Thr)), all in patients with CDGP. Neither these allelic variants nor any other mutations were found in 694 alleles from

2011 European Journal of Endocrinology PubMed abstract

46. Identification and Functional Analysis of Novel Human Growth Hormone Secretagogue Receptor (GHSR) Gene Mutations in Japanese Subjects with Short Stature. (Full text)

Identification and Functional Analysis of Novel Human Growth Hormone Secretagogue Receptor (GHSR) Gene Mutations in Japanese Subjects with Short Stature. Short stature (SS) is a multifactorial developmental condition with a significant genetic component. Recent studies have revealed that rare deleterious mutations in the GH-secretagogue receptor type 1A (GHSR1A) gene could be a cause of familial SS or GH deficiency.The aim of this study was to evaluate the contribution of GHSR1A mutations (...) functional consequences: 1) all mutations showed a loss-of-function effect on the constitutive signaling activity of GHSR1A, but the degree of loss varied widely; 2) C173R caused intracellular retention of the mutated protein, resulting in total loss of receptor function; 3) P108L resulted in a large decrease in binding affinity to ghrelin, without affecting its surface expression; 4) D246A uniquely impaired agonist- and inverse agonist-stimulated receptor signaling; and 5) ΔQ36 showed only a subtle

2010 Journal of Clinical Endocrinology and Metabolism PubMed abstract

47. Diagnostic testing for uniparental disomy

chromosome 14 and epigenetic defects. 59,60 Excessive RTL1 expression and absent MEG expression in the q32.2 region of chromosome 14 constitute the primary underlying factors for the phenotypic abnorm- alities in these patients. 59,60 Maternal UPD15 and Prader–Willi syndrome Prader–Willi syndrome (PWS, MIM 176270) is characterized by neonatal hypotonia and poor suck with failure to thrive, developmental delay and/or intellectual disability, childhood- onset obesity, short stature, hypogonadism (...) , and adult short stature. 53 Maternal UPD14 is the most widely recognized cause of TS; it results in loss of expression of all paternally expressed genes (DLK1, RTL1, and DIO3) and overexpression of maternally expressed genes (noncoding RNAs GTL2/MEG3, MEG8, RTL1as, and additional micro- RNAs [miRNAs] and small nucleolar RNAs [snoRNAs]) at chromosome 14q32.2. 54,55 In rare cases, maternal UPD14 has been reported in association with mosaicism, 56 Robertsonian translocations, 57 and sSMC. 58 Paternal UPD14

2020 American College of Medical Genetics and Genomics

48. Delayed puberty

with constitutional delay are typically observed. Sex-steroid treatment is reserved for those with psychosocial maladaptation, and consists of a short course of sex steroids to induce puberty. Patients with an organic cause for delay are given sex-steroid therapy to induce puberty and are most likely to require lifelong hormone replacement therapy after puberty is complete. Definition Puberty is an interval characterised by the acquisition of the secondary sexual characteristics, accelerated linear growth (...) , increase in the secretion of sex hormones, maturation of gonads (testes in boys; ovaries in girls), and the potential for reproduction. It is typically complete within 2 to 5 years. Delayed puberty is defined as the lack of any pubertal signs by the age of 13 years in girls and 14 years in boys. History and exam presence of risk factors boys: testes <3 mL girls: absent breast development absent pubic/axillary hair absence of menarche absent growth spurt anosmia short stature dysmorphic features FHx

2018 BMJ Best Practice

49. Burosumab (Crysvita) - X-linked hypophosphataemia/hypophosphatemia

albumin ALP alkaline phosphatase API Active Pharmaceutical Ingredient AS Active Substance ATP adenosine triphosphate AUC area under the serum concentration time curve AUC0-8 AUC from zero to infinity AUC0-t AUC from zero to the last detectable time point AUClast AUC from zero to the time of last measured concentration BAL BioAgilytix BALP bone-specific alkaline phosphatase BP Bodily Pain or Blood pressure BPI Brief Pain Inventory BPI-SF Brief Pain Inventory – Short Form BR Batch Record BSV Between (...) process constitutes of three main parts: 1) upstream cell culture process, 2) downstream purification process, and 3) filtration and storage. Burosumab AS is filled in bags and shipped from the AS manufacturing site to the FP manufacturing site in the same area of the Takasaki Plant. The shipping method is qualified to keep the AS in a frozen state under the specified temperature range and operating time. The media used in the upstream cell culture process do not contain any materials of animal origin

2018 European Medicines Agency - EPARs

50. 2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy (Full text)

., Noorman, M. et al. Arrhythmogenic right ventricular dysplasia/cardiomyopathy diagnostic task force criteria: impact of new task force criteria. Circ Arrhythm Electrophysiol . 2010 ; 3 : 126–133 | | | BSA = body surface area; ECG = electrocardiogram; echo = echocardiogram; MRI = magnetic resonance imaging; PLAX = parasternal long-axis; PSAX = parasternal short-axis; RBBB = right bundle branch block; RV = right ventricular; RVEDV = right ventricular end-diastolic volume; RVEF = right ventricular

2019 International Society for Heart and Lung Transplantation PubMed abstract

51. Emergency management of adrenal insufficiency in children: advocating for treatment options in outpatient and field settings

CDKN1C IMAGe syndrome (intrauterine growth retardation, metaphyseal dysplasia, genital anomalies) Triple A or Allgrove AAAS Achalasia, alacrima Isolated familial glucocorticoid deficiency (FGD) MC2R, MRAP Tall stature, normal mineralocorticoid production FGD–DNA repair defect MCM4 NK-cell defect, short stature, recurrent viral infections, microcephaly, chromosomal breakage Glucocorticoid resistance GCCR Mineralocorticoid/androgen excess Metabolic diseases Adrenoleuk odystrophy ABCD1 Neurologic (...) . The magnitude of suppression of the HPA axis in rela- tion to dose, duration, and type of glucocorticoid therapy can vary among individuals due to variability in glucocor- ticoid pharmacokinetics and interindividual glucocorticoid receptor sensitivity. 11 Generally, the HPA axis recovers rapidly when the duration of glucocorticoid treatment is short, that is, less than 7–10 days, even when high doses are used. In these circumstances, it is appropriate to discon- tinue glucocorticoids abruptly. However

2019 Pediatric Endocrine Society

52. Primary postpartum haemorrhage

mild signs of shock after a blood loss of 1000 mL 12 · Conversely compromise may occur earlier in women with: o Gestational hypertension with proteinuria o Anaemia o Dehydration o Small stature Haematocrit · Retrospectively diagnosed by a 10% decline in postpartum haematocrit levels 9 Blood transfusion · Australian Council of Healthcare Standards PPH indicator 13 o Blood transfusion required after a massive blood loss greater than or equal to 1000 mL or in response to a postpartum haemoglobin (Hb (...) ) and immunoglobulins · There is usually no objection to intraoperative cell salvage, apheresis, cardiac bypass or normovolaemic haemodilution providing the equipment is primed with non-blood fluids and continuity of connection to the woman is maintained · Recombinant products such as erythropoiesis stimulating agents and granulocyte colony stimulating factors are acceptable as are pharmacological agents such as intravenous iron and tranexamic acid Plan care · Clarify with each woman and document what constitutes

2019 Queensland Health

53. AACE/ACE Guidelines for Management of Growth Hormone Deficiency in Adults and Patients Transitioning from Pediatric to Adult Care

and Drug Administration; FD-GST = fixed-dose glucagon stimulation test; GeNeSIS = Genetics and Neuroendocrinology of Short Stature International Study; GH = growth hormone; GHD = growth hormone deficiency; GHRH = growth hormone–releasing hormone; GST = glucagon stimula- tion test; HDL = high-density lipoprotein; HypoCCS = Hypopituitary Control and Complications Study; IGF-1 = insulin-like growth factor-1; IGFBP = insulin-like growth factor–binding protein; IGHD = isolated growth hormone deficiency; ITT (...) and reduced reported side effects, dependent on age, gender, body mass index, and various other individual characteristics. With care- ful dosing of rhGH replacement, many features of adult GHD are reversible and side effects of therapy can be minimized. Scientific studies have consistently shown rhGH therapy to be beneficial for adults with GHD, includ - ing improvements in body composition and quality of life, and have demonstrated the safety of short- and long-term rhGH replacement. Abbreviations: AACE

2019 American Association of Clinical Endocrinologists

54. Male Hypogonadism

to enzymatic defects of steroid biosynthesis (17,20- hydroxlyase defect, 17 β -hydroxysteroid dehydrogenase defect) Gonadal dysgenesis (synonym ‘streak gonads’) XY gonadal dysgenesis can be caused by mutations in different genes 46,XX male syndrome (prevalence of 1 in 10,000-20,000) Males with presence of genetic information from the Y chromosome after translocation of a DNA segment of the Y to the X chromosome during paternal meiosis Noonan syndrome (prevalence of 1 in 1,000 to 1 in 5,000) Short stature (...) - male reproductive health and dysfunction. 3rd edn., in Springer. 2010: Berlin. 35. Pitteloud, N., et al. Complex genetics in idiopathic hypogonadotropic hypogonadism. Front Horm Res, 2010. 39: 142. 36. Sedlmeyer, I.L., et al. Pedigree analysis of constitutional delay of growth and maturation: determination of familial aggregation and inheritance patterns. J Clin Endocrinol Metab, 2002. 87: 5581. 37. Kelsey, T.W., et al. A validated age-related normative model for male total testosterone shows

2019 European Association of Urology

55. Use of Silver Diamine Fluoride for Pediatric Dental Patients

and at the direction of a responsible dentist of record. Methods This policy is a review of current dental and medical literature and sources of recognized professional expertise and stature, including both the academic and practicing health communities, related to SDF and silver nitrate. In addition, literature searches of PubMed®/MEDLINE and Google Scholar databases were conducted using the terms: diamine silver fluoride and caries, Howe’s solution, silver nitrate and caries, and silver diamine fluoride; fields (...) of the code per tooth or per visit. 42 Because there is a recommended code for SDF application, billing the procedure using any other code would constitute fraud, as defined by the Federal Code of Regulations. 44 The AAPD supports the education of dental students, residents, other oral health professionals and their staffs to ensure good understanding of the appropriate coding and billing practices to avoid fraud. 45 Approved by AAPD General Assembly 05/27/2018 © American Academy of Pediatric Dentistry

2018 American Academy of Pediatric Dentistry

56. Male Hypogonadism

to enzymatic defects of steroid biosynthesis (17,20- hydroxlyase defect, 17 β -hydroxysteroid dehydrogenase defect) Gonadal dysgenesis (synonym ‘streak gonads’) XY gonadal dysgenesis can be caused by mutations in different genes 46,XX male syndrome (prevalence of 1 in 10,000-20,000) Males with presence of genetic information from the Y chromosome after translocation of a DNA segment of the Y to the X chromosome during paternal meiosis Noonan syndrome (prevalence of 1 in 1,000 to 1 in 5,000) Short stature (...) - male reproductive health and dysfunction. 3rd edn., in Springer. 2010: Berlin. 35. Pitteloud, N., et al. Complex genetics in idiopathic hypogonadotropic hypogonadism. Front Horm Res, 2010. 39: 142. 36. Sedlmeyer, I.L., et al. Pedigree analysis of constitutional delay of growth and maturation: determination of familial aggregation and inheritance patterns. J Clin Endocrinol Metab, 2002. 87: 5581. 37. Kelsey, T.W., et al. A validated age-related normative model for male total testosterone shows

2018 European Association of Urology

57. Management of Valvular Heart Disease (Full text)

that constitute the minimal core requirements have been released. Experience in the full spectrum of surgical procedures—including valve replacement; aortic root surgery; mitral, tricuspid and aortic valve repair; repair of complicated valve endocarditis such as root abscess; treatment of atrial fibrillation as well as surgical myocardial revascularization—must be available. The spectrum of interventional procedures in addition to TAVI should include mitral valvuloplasty, mitral valve repair (edge-to-edge (...) , NOACs may be used in patients who have atrial fibrillation associated with an aortic bioprosthesis >3 months after implantation but are strictly contraindicated in patients with any mechanical prostheses. , Surgical ablation of atrial fibrillation combined with mitral valve surgery is effective in reducing the incidence of atrial fibrillation, but at the expense of more frequent pacemaker implantation, and has no impact on short-term survival. Surgical ablation should be considered in patients

2017 European Society of Cardiology PubMed abstract

59. Hypothalamic - Pituitary and Growth Disorders in Survivors of Childhood Cancer (Full text)

cancer survivors at the highest risk of developing an endocrine abnormality over time; these endocrinopathies can develop decades following cancer treatment, underscoring the importance of lifelong surveillance. The following guideline addresses the diagnosis and treatment of hypothalamic–pituitary and growth disorders commonly encountered in childhood cancer survivors. List of Recommendations Short stature/impaired linear growth in childhood cancer survivors Diagnosis and monitoring of short stature (...) . The upper to lower segment ratio can then be calculated but differs depending on the method used and ethnicity. In situations where clinicians are unable to measure sitting height, measuring arm span and comparing it to standing height will provide an estimate of spinal foreshortening due to prior spinal radiation. Treatment of short stature/impaired linear growth in childhood cancer survivors 1.3 We suggest against using growth hormone in cancer survivors who do not have growth hormone deficiency

2018 The Endocrine Society PubMed abstract

60. Müllerian Agenesis: Diagnosis, Management, and Treatment

with primary amenorrhea demonstrates delayed puberty, a serum follicle stimulating hormone level (FSH) and karyotype should be performed. The most common genetic etiology of pubertal delay and primary amenorrhea is Turner syndrome with a 45,X karyotype and an elevated FSH. Additional testing for the presence of Y chromatin (mosaicism) should be considered. The patient with Turner syndrome usually will have short stature, a typical length vagina, cervix and uterus present, and delayed puberty due (...) 409 12th Street SW, Washington, DC 20024-2188 Mailing Address: PO Box 96920, Washington, DC 20024-9998 Copyright 2019. All rights reserved. Use of this Web site constitutes acceptance of our

2018 American College of Obstetricians and Gynecologists

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