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Query: UMLS:C0011849 (diabetes)
 277,896 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Noninsulindependent diabetes mellitus is 2-4 times more prevalent in Turner subjects as compared to normal females, and tends to develop at a younger age, but it is usually mild and responsive to weight loss or monotherapy. The primary pathogenic event is beta cell dysfunction, but insulin resistance also plays a central role and is worsened by the presence of hypertension, obesity and dyslipidemia which are common in Turner syndrome. We present the case of a 30 year-old female patient with short stature, 141cm (<-- 2.5 SD), overweight 51kg, waist circumference 79cm, triangular facies, downslanting palpebral fissures, low set ears, short neck, secondary amenorrhea, palpitations, a history of polyuria, polydypsia of three months duration and a fasting morning glucose of 260 mg/dL. Cardiac and renal defects were excluded, hormonologic evaluation was consistent with hypergonadotropic hypogonadism (FSH 65 mUI/mL) and primary hypothyroidism (TSH 5.68 microUI/mL) and karyotype was 45,XO. She also had hypercholesterolemia (247 mg/dL), hypocalcemia (8 mg/dL), mild elevation of hepatic enzymes (ALAT 51 U/L) and osteopenia (Tscore--2.22). Glycaemic control was achieved with diet only; therapy consisted of hormone replacement theraphy, thyroxine and beta blockers.
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PMID:Diabetes mellitus and Turner syndrome. 1833 65

Cardiovascular complications in Turner's syndrome are the most common cause of excess early mortality, with a life expectancy that may be reduced by more than 10 years. Congenital cardiac abnormalities are described in approximately one third of patients. These abnormalities are mostly left heart obstructions, the most common of which are bicuspid aortic valve (16%) and coarctation of the aorta (11%). Dilatations of the ascending aorta are often described and may occur in isolation from any heart disease, suggesting a vasculopathy specific to the syndrome, probably predisposed to by extracardiac risk factors such as oestrogen deficiency, diabetes, dysplidaemia and overweight. The most feared complication is aortic dissection with around a 100 cases, described at average age of approximately 35-years-old. This is believed to complicate 2% of induced pregnancies. Hypertension (HBP) usually essential, affects up to 50% of patients with Turner's syndrome. This is an important risk factor for cardiovascular complications and justifies aggressive treatment. On the other hand, retrospective studies have not demonstrated adverse cardiological effects due to growth hormone treatments. Patients with Turner's syndrome merit regular cardiology follow-up from childhood onwards, particularly if they have treated heart disease. The merits of preventative treatments for aortic dilatation have not been demonstrated in Turner's syndrome and justify prospective trials.
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PMID:Cardiovascular abnormalities in Turner's syndrome: what prevention? 1884 91

The Paediatric and Adolescent Endocrine and Diabetes Society of South Africa (PAEDS-SA) recommends, in line with other international groups, that growth hormone (GH) therapy be considered for children and adolescents with significantly short stature and poor growth velocity in the following instances: GH deficiency; Turner syndrome; Prader-Willi syndrome; small-for-gestational-age children with failure of catch-up growth; idiopathic short stature; and chronic renal insufficiency. We have produced treatment guidelines for the use of GH, designed to allow flexibility to determine coverage on a case-by-case basis. We further recommend that when used for growth promotion, GH therapy should be initiated and monitored by, or in consultation with, a paediatric endocrinologist.
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PMID:Guideline for using growth hormone in paediatric patients in South Africa: treatment of growth hormone deficiency and other growth disorders. 1956 97

Celiac disease is an immune-mediated enteropathy affecting 0.5% to 1% of children and is induced by dietary gluten in susceptible individuals carrying the human leukocyte antigen DQ2 or DQ8 heterodimer. If serological screening is positive or if a patient displays suggestive symptoms, an endoscopic biopsy of the distal duodenum is required to confirm the diagnosis. Symptoms of celiac disease are often mild or absent. Overt malabsorption occurs in only 2% to 10% of children. Individuals with a higher risk of developing celiac disease, including first-degree relatives of affected patients and children with type I diabetes, Turner syndrome, Williams syndrome or Down syndrome, should be offered screening for celiac disease along with a discussion of the implications. If serological testing is negative, a high index of suspicion should remain if malabsorption, iron deficiency or osteopenia is present. Also, immunoglobulin A deficiency should be excluded. At-risk individuals should undergo serial serological screening. Lifelong adherence to a gluten-free diet is the only treatment. If left untreated, symptomatic children with celiac disease carry an increased risk of developing osteoporosis and have a greater lifetime risk of cancer. The long-term outcome of undiagnosed or untreated asymptomatic individuals is less clear.
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PMID:Practical considerations for the identification and follow-up of children with celiac disease. 1968 81

Every year a several percent of newborns is affected with deficient body size, in some of these cases can be identified growth disorders, for examples Turner's Syndrome, Noonan Syndrome, idiopathic growth hormone deficiency. Clinical records of such newborns, aimed at monitoring their growth, do not exist so far. Screening for body size deficiencies requires only that the measurements of body length and mass be appropriately performed and this would be much less costly than screenings for congenital metabolic diseases. These recommendations are supported by the fact that in recent decades the risk of growth disorders and/or short stature (body height below -2 SDS upon full skeletal maturity) of children with deficient body size at birth is 5- to 7-fold higher than in those with normal body size relative the time of delivery. Moreover, in the former newborns the risk of behavioural/psychosocial disorders, hypertension, CHD, Type 2 diabetes and several other hormonal disorders were shown to be also higher than in the "normal"-born ones. The number of the so afflicted individuals and costs of potential therapies evidence the indispensability of a widespread detection of deficient body size at birth and a subsequent growth monitoring consisting of measuring body length/height 4 times in the course of the first year of life and twice a year thereafter.
Pediatr Endocrinol Diabetes Metab 2009
PMID:[Children with body length deficiency at birth and at risk of growth deficiency since childhood]. 2038 84

Decomposing stature into its major components is proving to be a useful strategy to assess the antecedents of disease, morbidity and death in adulthood. Human leg length (foot + tibia + femur), sitting height (trunk length + head length) and their proportions (for example the relative leg length in proportion to stature, and the sitting height ratio [sitting height/stature x 100], among others) are used as epidemiological markers of risk for overweight (fatness), coronary heart disease, diabetes and certain cancers. There is also wide support for the use of relative leg length as an indicator of the quality of the environment for growth during infancy, childhood and the juvenile years of development. Human beings follow a cephalo-caudal gradient of growth, the pattern of growth common to all mammals. A special feature of the human pattern is that between birth and puberty the legs grow relatively faster than other post-cranial body segments. For groups of children and youth, short stature due to relatively short legs (i.e. a high sitting height ratio) is generally a marker of an adverse environment. The development of human body proportions is the product of environmental x genomic interactions, although few if any specific genes are known. The short stature homeobox-containing gene (SHOX) is the first genomic region that may be relevant to human body proportions. For example, one of the SHOX related disorders is Turner syndrome. However, in most cases research has been showing that environment is a more powerful force to shape leg length and body proportions than genes. Leg length and proportion are important in the perception of human beauty, which is often considered a sign of health and fertility. There are a variety of cosmetic, fashion, and surgical interventions to enhance perceived or actual leg length.
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PMID:Leg length, proportion, health and beauty: a review. 2044 Sep 62

Trisomy 20 is one of the most often identified disorders in amniocytes, but in a postnatal analysis is detected rather rarely. We present a girl with dysmorphic features, congenital defects, tumor of a suprarenal gland, hypothyroidism and abnormal intelligence. The recognition of mosaic trisomy 20 was confirmed after cytogenetic examination of the skin fibroblast. The karyotype is described as mos 47,XX,+20/46,XX. The karyotype from peripheral blood lymphocytes, which was examined in the 1st year of life, was normal female (46,XX) and the Turner syndrome was excluded. During 10 years we observed that the dysmorphic features were increased and suggested genetic reasons of these features. In children with dysmorphic features and normal karyotype of blood lymphocytes a wide-ranged genetic counseling is necessary.
Pediatr Endocrinol Diabetes Metab 2009
PMID:[Mosaic trisomy of chromosome 20 in a patient with congenital anomalies--10-years observation]. 2045 22

Decomposing stature into its major components is proving to be a useful strategy to assess the antecedents of disease, morbidity and death in adulthood. Human leg length (femur + tibia), sitting height (trunk length + head length) and their proportions, for example, (leg length/stature), or the sitting height ratio (sitting height/stature x 100), among others) are associated with epidemiological risk for overweight (fatness), coronary heart disease, diabetes, liver dysfunction and certain cancers. There is also wide support for the use of relative leg length as an indicator of the quality of the environment for growth during infancy, childhood and the juvenile years of development. Human beings follow a cephalo-caudal gradient of growth, the pattern of growth common to all mammals. A special feature of the human pattern is that between birth and puberty the legs grow relatively faster than other post-cranial body segments. For groups of children and youth, short stature due to relatively short legs (i.e., a high sitting height ratio) is generally a marker of an adverse environment. The development of human body proportions is the product of environmental x genomic interactions, although few if any specific genes are known. The HOXd and the short stature homeobox-containing gene (SHOX) are genomic regions that may be relevant to human body proportions. For example, one of the SHOX related disorders is Turner syndrome. However, research with non-pathological populations indicates that the environment is a more powerful force influencing leg length and body proportions than genes. Leg length and proportion are important in the perception of human beauty, which is often considered a sign of health and fertility.
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PMID:Leg length, body proportion, and health: a review with a note on beauty. 2061 18

Within endocrinology, the long-term management of Turner syndrome (TS) in adults is fast becoming a specialist subject in its own right. The complications of TS can affect every system in the body, and the main reason why it falls to endocrinologists to coordinate health care is that many features are clearly within the endocrine remit: hypothyroidism, diabetes, hypertension, osteoporosis, hypogonadism. Endocrinologists as general physicians can often cover surveillance of problems in other areas such as congenital heart disease, inflammatory bowel disease and deafness, calling upon specialist input only if the need arises. In this way, a simple 'one stop shop' can offer a well-woman service for women with TS in a cost-effective manner. Such a service requires a multidisciplinary approach.
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PMID:How do you monitor the patient with Turner's syndrome in adulthood? 2071 75

A 37-year-old woman suffered from sudden hemiparesis due to an ischemic stroke. Physical examination revealed dysmorphic features, cognitive impairment, and emotional lability. Radiological studies showed multiple intracranial arterial stenoses, and laboratory examination revealed diabetes mellitus, dyslipidemia, and endocrinological abnormalities consistent with secondary amenorrhea. Karyotyping disclosed partial monosomy of the short arm of the X chromosome. We diagnosed the patient with Turner syndrome and concluded that premature atherosclerosis was a cause of stroke. We emphasize a possible relationship between strokes and Turner syndrome. Physicians need to manage adult Turner patients carefully, especially with regard to metabolic dysfunctions, to prevent strokes.
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PMID:Ischemic stroke in a young adult with Turner syndrome. 2115


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