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]
Entire Body System
- 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]
Neurologic
- Encephalopathy
MtDNA analysis revealed the A3243G mutation which has been associated with Myopathy, Encephalopathy, Lactic Acidosis and Stroke-like episodes (MELAS) and Maternally Inherited Deafness and Diabetes (MIDD). [endocrine-abstracts.org]
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]
Although most children with short or tall stature do not have a pathologic condition, extremes of height, especially beyond three standard deviations, require further workup. [aafp.org]
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]
Also, because growth-promoting benefits of GH treatment are modest and variable, it would be a mistake to assume that height-related teasing will cease with treatment. [journalofethics.ama-assn.org]
Additionally there is no evidence that GH treatment improves health-related quality of life or psychological adaptation.” [healio.com]
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]
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]
Outlook The prognosis for persons with normal variant short stature is excellent. [emedicinehealth.com]
Etiology
Etiological profile of short stature. Indian J Pediatr. 2003;70(7):545-7. http://dx.doi.org/10.1007/BF02723154. 13. Biswas, K., 2005. Short stature: Etiologically different in the developing country. [asean-endocrinejournal.org]
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]
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]
Paediatric Cushing's syndrome: epidemiology, investigation and therapeutic advances. Trends Endocrinol Metab. 2007;18(4):167–174. 22. Rogol AD, Hayden GF. [aafp.org]
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]
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]
Early intervention can prevent future problems in many cases. Normally, at 8 years of age, a child's arm span is around the same as their height. [medicalnewstoday.com]