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Constitutional Short Stature

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41. Constitutional Growth Delay (Overview)

> Constitutional Growth Delay Updated: Jan 08, 2019 Author: Pamela A Clark, MD; Chief Editor: Sasigarn A Bowden, MD Share Email Print Feedback Close Sections Sections Constitutional Growth Delay Overview Practice Essentials Children with constitutional growth delay (CGD), the most common cause of short stature and pubertal delay, [ ] typically have retarded linear growth within the first 3 years of life. In this variant of normal growth, linear growth velocity and weight gain slows beginning as young as age 3 (...) -6 months, resulting in downward crossing of growth percentiles, which often continues until age 2-3 years. At that time, growth resumes at a normal rate, and these children grow either along the lower growth percentiles or beneath the curve but parallel to it for the remainder of the prepubertal years. See the image below. Comparison of the growth patterns between idiopathic short stature and constitutional growth delay. At the expected time of puberty, the height of children with constitutional

2014 eMedicine Pediatrics

42. Constitutional Growth Delay (Follow-up)

Medications Medication therapy is with testosterone enanthate or cypionate (optional for males). Previous Next: Complications Short-term complications of constitutional growth delay are primarily limited to psychosocial issues resulting from differences in stature and sexual development from peer groups. As infants, delay in bone age may also manifest as delays in motor skills and control of bowel or bladder function as a result of immature muscular development. Long-term consequences of constitutional (...) with constitutional growth delay attain a normal adult height; however, stature tends to be at the lower end of the reference range for that individual's family because of the lower peak height velocity during the pubertal growth spurt. This observation may also reflect a bias in the individuals studied (more significantly delayed children referred to endocrinologists). Adult height is in contrast to individuals with idiopathic short stature (ISS), in whom stature and growth rate are likely to result in a low

2014 eMedicine Pediatrics

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

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

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2011 European Journal of Endocrinology

44. A DWARF MUTATION IN THE RABBIT : THE CONSTITUTIONAL INFLUENCE ON HOMOZYGOUS AND HETEROZYGOUS INDIVIDUALS (PubMed)

. 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

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1940 The Journal of experimental medicine

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

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

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2010 Journal of Clinical Endocrinology and Metabolism

46. Low Incidence of Pathology Detection and High Cost of Screening in the Evaluation of Asymptomatic Short Children. (PubMed)

% 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

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2013 Journal of Pediatrics

47. 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

48. 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

49. 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

50. 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

51. Management of Valvular Heart Disease

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

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2017 European Society of Cardiology

52. 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

54. 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

55. Hypothalamic - Pituitary and Growth Disorders in Survivors of Childhood Cancer

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

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2018 The Endocrine Society

56. An Update on Radial Artery Access and Best Practices for Transradial Coronary Angiography and Intervention in Acute Coronary Syndrome

does not appear to have a threshold. Predictors of PCI failure with TRA catheterization include increasing age (≥75 years), female sex, previous CABG, cardiogenic shock, and short stature. , It is recommended that operators and centers pursue a radial-first strategy and a graduated exposure to case complexity with a transition plan for the ACS setting. Plans to pursue TRA in STEMI and cardiogenic shock may need to be deferred until both the center and the operator have sufficient experience (...) reduce crossover rates through the identification of radial loops and other vascular anomalies. Access Site Selection and Patient Setup Although the RRA is often preferred for reasons of operator comfort and limitations of typical catheterization laboratory radiation safety equipment design, the LRA is considered in certain situations such as in patients with a left internal mammary bypass or those of short stature and >75 years of age. , Finally, some operators transitioning from TFA to TRA may

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2018 American Heart Association

57. Cost-Conscious Growth-Promoting Treatment: When Discretion Is the Better Part of Value

of long-term growth hormone treatment of idiopathic short stature. J Clin Endocrinol Metab. 2005 Sep; 90(9): 5247–53. 26 Salehpour S, Alipour P, Razzaghy-Azar M, Ardeshirpour L, Shamshiri A, Monfared MF, et al. A double-blind, placebo-controlled comparison of letrozole to oxandrolone ef- fects upon growth and puberty of children with constitutional delay of puberty and idio- pathic short stature. Horm Res Paediatr. 2010; 74(6): 428–35. 27 Schroor EJ, van Weissenbruch MM, Knibbe P, Delemarre-van de (...) height is complicated by uncer- tainty about how best to measure its therapeutic effect. Cost-conscious growth promotion practice, however, is pos- sible and likely an emerging practical requisite as health care payers increasingly deny the medical necessity of and re- strict support for short stature treatment. The increase in de- nials is not surprising given the expansion and continued high cost of hGH treatment, debate about the value of such treatment, and universal need to restrain burgeoning

2018 Pediatric Endocrine Society

58. 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

59. Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting

systematic review of the literature. These four questions related to the efficacy and most optimal treatment of short stature, infertility, hypertension, and hormonal replacement therapy. The guidelines project was initiated by the European Society of Endocrinology and the Pediatric Endocrine Society, in collaboration with the European Society for Paediatric Endocrinology, the Endocrine Society, the European Society of Human Reproduction and Embryology, the American Heart Association, the Society (...) with a separate systematic review of the literature. These four questions related to the efficacy and most optimal treatment of short stature, infertility, hypertension, and hormonal replacement therapy. The guidelines project was initiated by the European Society of Endocrinology and the Pediatric Endocrine Society, in collaboration with the European Society for Paediatric Endocrinology, the Endocrine Society, the European Society of Human Reproduction and Embryology, the American Heart Association

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2016 European Society of Human Reproduction and Embryology

60. Faltering growth: recognition and management of faltering growth in children.

short stature (see recommendation above) Rapid weight loss or severe undernutrition Features that cause safeguarding concerns (see the NICE guideline on ). Organisation of Care Ensure there is a pathway of care for infants and children where there are concerns about faltering growth or weight loss in the early days of life that: Clearly sets out the roles of healthcare professionals in primary and secondary care settings Establishes and makes clear the process for referral to and coordination (...) , based on the assessment, advise on food choices for infants and children that: Are appropriate to the child's developmental stage in terms of quantity, type and food texture Optimise energy and nutrient density. In infants or children who need a further increase in the nutrient density of their diet beyond that achieved through advice on food choices, consider: Short-term dietary fortification using energy-dense foods Referral to a paediatric dietitian. Advise the parents or carers of infants

2017 National Guideline Clearinghouse (partial archive)

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