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Familial Short Stature


Presentation

  • Patients with Gitelman syndrome are usually diagnosed by chance or present with muscular weakness, constipation, or tetanies due to hypokalemia and hypomagnesemia.[ncbi.nlm.nih.gov]
  • IGF-IR gene anomalies presenting with intrauterine and postnatal growth retardation have recently been reported in some families.[ncbi.nlm.nih.gov]
  • In three individuals of the same family, presenting with growth failure, high circulating GH levels, both basal and stimulated, were found. Insulin-like growth factor-1 plasma levels were either normal or in the low normal range.[ncbi.nlm.nih.gov]
  • Abstract The aim of the present study was to evaluate the GH status in children with familial, idiopathic short stature (FSS).[ncbi.nlm.nih.gov]
  • Abstract Intrauterine growth retardation (IUGR) is an important cause of small stature in children presenting to paediatric endocrinologists.[ncbi.nlm.nih.gov]
Fishing
  • Rao E et al. (1997) FISH-deletion mapping defines a 270-kb short stature critical interval in the pseudoautosomal region PAR1 on human sex chromosomes. [ ] 13.[moldiag.com]
  • Similar results were found with hobbies and sports as the children preferred individual sports like fishing and swimming rather than participating in sports involving teammates [ 9 ].[omicsonline.org]
Family History of Deafness
  • There was no family history of deafness or diabetes mellitus although her mother had been investigated extensively for chronic fatigue.[endocrine-abstracts.org]
Turkish
  • Roles in Postnatal Growth and Development 2857 Implications for Human Growth 2871 Part XV Assessment of Growth Methods Standards and Comparative Data 2889 India Perspectives 2891 173 The WHO Growth Curves and US Infants 2903 174 Growth Standards for Turkish[books.google.com]
High Arched Palate
  • In our sample, the two most frequently observed dysmorphic signs were clinical and/or radiological Madelung deformity (86%) and high arched palate (77%). Half the girls were born small for gestational age.[ncbi.nlm.nih.gov]
Social Isolation
  • Bullying due to SS is one of the most correlated risk factors to psychosocial stress in children.1SS has been related to frequency of bullying, stigmatization and social isolation, which can lead to chronic psychosocial stress.[omicsonline.org]
Low Self-Esteem
  • Parental dissatisfaction of their children's stature could lead to children with low self-esteem, dissatisfaction with their own body image and they may perceive themselves as unpopular, while others may view them as emotionally immature [ 7 ].[omicsonline.org]
Phenylketonuria
  • Turner Syndrome 2281 Genetics and Growth Response to Growth Hormone Treatment in Comparison with Turner Syndrome 2299 138 Zinc Transporter Mutations and Human Growth 2319 139 Growth in Common Inherited Disorders 0 Cystic Fibrosis Sickle Cell Disease and Phenylketonuria[books.google.com]

Workup

  • Workup for GH def• endogenous GH is secreted in a pulsatile fashion. These intermittent peaks are greatest after exercise, meals, and during deep sleep.[slideshare.net]

Treatment

  • Abstract We evaluated the 12 month growth of 18 pubertal children with familial short stature randomly assigned to clinical follow-up (group A), GH treatment alone (group B) and GH LHRH analogue (LHRHa) treatment (group C).[ncbi.nlm.nih.gov]
  • Make the best clinical decisions with an enhanced emphasis on evidence-based practice and expert opinions on treatment strategies. Zero in on the most relevant and useful references with the aid of a more focused, concise bibliography.[books.google.com]
  • Since in most children with IUGR adult heights to be expected are below the population range, growth hormone treatment has been tried for many years, but the data available from the literature are not encouraging to date and need to be re-evaluated in[ncbi.nlm.nih.gov]
  • Four children achieved adult height (-2.0 0.9 SDS) with a gain over baseline height of 1.0 0.5 SDS after a mean treatment duration of 5.8 2.1 years.[ncbi.nlm.nih.gov]
  • […] patients presenting with 1) low birth weight and birth height ( -1.5 SD), 2) a familial history of low birth weight, 3) a normal or increased IGF-I level, 4) a normal or increased GH response to the GH stimulation test, and/or 5) less response to GH treatment[ncbi.nlm.nih.gov]

Prognosis

  • Moreover in group B height and height prognosis standard deviation score SDS) also were higher (-2.2 /- 0.2 vs -1.7 /- 0.2 and 1.8 /- 0.3 vs -1 /- 0.2, respectively).[ncbi.nlm.nih.gov]
  • We present a short statured boy with a clear history of familial short stature, normal growth and a final height prognosis within the target height range. However, routine laboratory studies led to the diagnosis of Gitelman syndrome.[ncbi.nlm.nih.gov]
  • The purpose of genetic evaluation for short stature is to provide accurate diagnosis for medical management and to provide prognosis and recurrence risk counseling for the patient and family.[nature.com]
  • It may affect the whole body or any of its parts, and its etiology, pathology, and prognosis may be known or unknown" [ 11 ].[ijpeonline.biomedcentral.com]
  • Role for the Pediatric Endocrinologist David's parents came in with a diagnosis, prognosis, and treatment plan in mind: that their son (1) has short stature, (2) will suffer from psychosocial problems similar to those of his father who attributes his[journalofethics.ama-assn.org]

Etiology

  • Laboratory evaluation Choice of tests should be based on the potential etiologies after a careful history and physical examination.[online.epocrates.com]
  • References: [9] Treatment Management depends on the underlying cause : References: [9] Skeletal dysplasias Achondroplasia Etiology Epidemiology Most common type of skeletal dysplasia and disproportionate short stature ( 1:40,000 children worldwide affected[amboss.com]
  • Clinical Pearls • What diagnoses should be considered in a child with short stature and what is the most common etiology? Clinicians who evaluate children with short stature must consider many potential causes.[blogs.nejm.org]
  • […] kidney function for chronic disease, sweat chloride testing GH stimulation test, IGF1, IGFBP-3 FT4, TSH, ASTH, urine, serum cortisol, dexamethasone suppression test MRI for pituitary disease Karyotype for genetic syndromes TREATMENT: It depends on the etiology[drhc.ae]
  • The most useful information in the evaluation of a child with short stature is the child's growth pattern Medical care depends on the etiology of the short stature.[emedicine.medscape.com]

Epidemiology

  • Organic Pollutants and Fetal Growth 2559 153 n3 Polyunsaturated Fatty Acids and Foetal Growth 2579 154 Polyunsaturated Fatty Acids and Growth in Healthy Children and Some Rare Diseases 2597 155 Folate and Fetal Growth 2619 Growth Exercise and Nutrition Epidemiological[books.google.com]
  • Frequency [ edit ] Although the epidemiologic data indicate that all variants of normal growth are twice as common in boys as in girls, referrals for short stature reflect an even more divergent sex ratio.[en.wikipedia.org]
  • References: [9] Treatment Management depends on the underlying cause : References: [9] Skeletal dysplasias Achondroplasia Etiology Epidemiology Most common type of skeletal dysplasia and disproportionate short stature ( 1:40,000 children worldwide affected[amboss.com]
Sex distribution
Age distribution

Pathophysiology

  • Pathophysiology [ edit ] CDGP is a global delay in development that affects every organ system.[en.wikipedia.org]
  • Clinical review 14: Pathophysiology and treatment of sexual precocity. JClin Endocrinol Metab 1990; 71:785. 10. Clinical pediatric endocrinology by Charles Groves Darville Brook, Peter E. Clayton, Rosalind S. Brown. 11. Stedman's Medical Dictionary.[wikidoc.org]
  • References: [1] [2] Causes of short stature Causes of short stature Pathophysiology Specific features Nonpathological Familial short stature Inheritance of parental short stature Normal development; skeletal age consistent with chronological age Constitutional[amboss.com]

Prevention

  • Prevention Short stature can’t be prevented in children who have a familial short stature or short stature from genetic problems. Short stature from health problems can be prevented by treating the problem causing it.[cancercarewny.com]
  • Growth disorders are problems that prevent children from developing normal height, weight, sexual maturity or other features. Very slow or very fast growth can sometimes signal a gland problem or disease.[icdlist.com]
  • A well balanced diet will help prevent or overcome this disorder. Intrauterine Growth Retardation (“IUGR”) ( top ) A disorder which occurs while the baby is still in the mother’s womb.[hgfound.org]
  • In this study, age percentiles were determined for each subject according to the Centres for Disease Control and Prevention (CDC) growth charts. Normal height is between 5 th - 95 th percentiles. Short stature is height below 5 th percentile.[omicsonline.org]
  • Illnesses that affect the whole body (also called systemic diseases) Malnutrition--constant malnutrition prevents children from attaining their full growth potential; a well-balanced diet generally prevents or corrects this disorder.[childrensnational.org]

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