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

We present the case of a young man with type II diabetes, stage III chronic kidney disease, hypertension, obstructive sleep apnea and diabetes who presented to the Georgetown University Hospital Center for Wound Healing with refractory lower extremity ulcers. Autoimmune work-up was negative. However, chromosome analysis showed a genetic variant of Klinefelter's syndrome (48 XXYY). Lower extremity ulceration is a recognised complication of Klinefelter's syndrome. The pathogenesis of ulcers in this endocrinopathy is unclear, but associations with abnormalities of fibrinolysis and prothrombotic states are reported. This case emphasises the importance of considering Klinefelter's syndrome in the differential diagnosis of a sterile male patient with non healing lower extremity ulcers.
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PMID:Leg ulcers associated with Klinefelter's syndrome: a case report and review of the literature. 2185 49

Rett syndrome (RS) is a neurodevelopmental disorder mainly affecting girls. It is characterized by a normal prenatal and perinatal period, apparently normal development for the first 6 months of life, and then a decelaration in head growth, loss of hand and communication skills, psychomotor retardation, as well as the development of sterotyped hand movement and truncal or gait apraxia. It has been shown to be related to mutations in the MECP2 gene located on Xq28. Diabetes mellitus (DM) type 1 may be associated with certain genetic disorders such as Down syndrome, Turner syndrome, and Klinefelter syndrome. In this work, we report the case of a 9-year-old girl with RS who developed DM at the age of 6. To our knowledge, our patient is the third case reported to date of DM associated with Rett syndrome.
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PMID:A case of diabetes mellitus associated with Rett syndrome. 2257 Sep 76

The human eye, as an organ, can offer critical clues to the diagnosis of various systemic illnesses. Ocular changes are common in various endocrine disorders such as diabetes mellitus and Graves' disease. However there exist a large number of lesser known endocrine disorders where ocular involvement is significant. Awareness of these associations is the first step in the diagnosis and management of these complex patients. The rare syndromes involving the pituitary hypothalamic axis with significant ocular involvement include Septo-optic dysplasia, Kallman's syndrome, and Empty Sella syndrome all affecting the optic nerve at the optic chiasa. The syndromes involving the thyroid and parathyroid glands that have ocular manifestations and are rare include Mc Cune Albright syndrome wherein optic nerve decompression may occur due to fibrous dysplasia, primary hyperparathyroidism that may present as red eye due to scleritis and Ascher syndrome wherein ptosis occurs. Allgrove's syndrome, Cushing's disease, and Addison's disease are the rare endocrine syndromes discussed involving the adrenals and eye. Ocular involvement is also seen in gonadal syndromes such as Bardet Biedl, Turner's, Rothmund's, and Klinefelter's syndrome. This review also highlights the ocular manifestation of miscellaneous syndromes such as Werner's, Cockayne's, Wolfram's, Kearns Sayre's, and Autoimmune polyendocrine syndrome. The knowledge of these relatively uncommon endocrine disorders and their ocular manifestations will help an endocrinologist reach a diagnosis and will alert an ophthalmologist to seek specialty consultation of an endocrinologist when encountered with such cases.
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PMID:The eye as a window to rare endocrine disorders. 2262 95

Klinefelter syndrome is the most common type of genetic cause of hypogonadism. This syndrome is characterized by the presence of 1 or more extra X chromosomes. Phenotype manifestations of this syndrome are small testes, fibrosis of the seminiferous tubules, inability to produce sperm, gynecomastia, tall stature, decrease of serum testosterone and increases of luteinizing hormone and follicle stimulating hormone. Most patients with Klinefelter syndrome are tall, with slender body compositions, and reports of obesity are rare. We report the case of a 35-yr-old man with hypogonadism and morbid obesity and diabetes mellitus. He had gynecomastia, small testes and penis, very sparse body hair and his body mass index was 44.85. He did not report experiencing broken voice and was able to have erections. We conducted a chromosome study. His genotype was 47,X,+t(X;X)(p22.3;p22.3)del(X)(p11.23q11.2). In this case, the patient was diagnosed as Klinefelter syndrome. He showed rare phenotypes like morbid obesity and average height and the phenotype may be caused by the karyotype and the excess number of X chromosome. Further studies of the relationship between chromosomes and phenotype are warranted.
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PMID:A 47,X,+t(X;X)(p22.3;p22.3)del(X)(p11.23q11.2),Y Klinefelter variant with morbid obesity. 2336 94

Testosterone levels are lower in men with metabolic syndrome and type 2 diabetes mellitus (T2DM) and also predict the onset of these adverse metabolic states. Body composition (body mass index, waist circumference) is an important mediator of this relationship. Sex hormone binding globulin is also inversely associated with insulin resistance and T2DM but the data regarding estrogen are inconsistent. Clinical models of androgen deficiency including Klinefelter's syndrome and androgen deprivation therapy in the treatment of advanced prostate cancer confirm the association between androgens and glucose status. Experimental manipulation of the insulin/glucose milieu and suppression of endogenous testicular function suggests the relationship between androgens and insulin sensitivity is bidirectional. Androgen therapy in men without diabetes is not able to differentiate the effect on insulin resistance from that on fat mass, in particular visceral adiposity. Similarly, several small clinical studies have examined the efficacy of exogenous testosterone in men with T2DM, however, the role of androgens, independent of body composition, in modifying insulin resistance is uncertain.
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PMID:Sex steroids and glucose metabolism. 2445 40

There are reports suggesting that people with Klinefelter's syndrome (KS) may be at increased risk of some autoimmune diseases, but the evidence is not substantial. We wanted to add to the evidence by systematically assessing the risk of autoimmune diseases in a national cohort of people with KS. We selected records of all people with KS in a record-linked dataset of all hospital day cases and inpatient admissions in England, 1999-2011; and we followed them up by electronic record linkage to identify the occurrence of autoimmune diseases. We compared their occurrence in the KS cohort with a control cohort, studied in the same way, and expressed the results as rate ratios (RR). Of 30 autoimmune diseases studied in people with KS, there were significantly increased risks of seven-Addison's disease (RR 11.7, 95% confidence interval 2.4-34.4), diabetes mellitus type 1 (6.1, 4.4-8.3), multiple sclerosis (4.3, 1.2-11.0), acquired hypothyroidism (2.7, 1.8-4.0), rheumatoid arthritis (3.3, 2.0-5.2), Sjogren's syndrome (19.3, 4.0-57.0) and systemic lupus erythematosus (18.1, 2.2-65.6). We concluded that people with KS have increased risk of some autoimmune diseases, particularly those that are female-predominant. The increased risk of autoimmune diseases associated with the XXY karyotype may hold clues to the pathogenesis of some aspects of autoimmunity.
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PMID:Associations between Klinefelter's syndrome and autoimmune diseases: English national record linkage studies. 2529 57

Klinefelter syndrome is one of the most frequent sex chromosomal aberration. It is usually not recognized before puberty and many patients remain never diagnosed. Delayed puberty and hypergonadotropic hypogonadism are typical in this syndrome. Early diagnosis and therapy with androgens is important for patients. We present case of 8-year old boy with Klinefelter syndrome who was admitted to our department because of precocious puberty.
Pediatr Endocrinol Diabetes Metab 2013
PMID:[Klinefelter syndrome in a boy with symptoms of precocious puberty]. 2561 16

Numerous endocrine diseases are associated with impaired glucose metabolism and can induce diabetes mellitus. With the exception of hyperthyroidism, where this is uncommon, these diseases are rare. Acromegaly and Cushing syndrome are frequently associated with impaired glucose tolerance and diabetes. In contrast, this is a rare finding in pheochromocytoma and Conn syndrome. Among the many drugs that can induce diabetes this can be observed most frequently with hormones, atypic antipsychotic drugs and immunosuppressives. In addition, diseases of the pancreas such as pancreatitis, pancreatic carcinoma, cystic fibrosis and hemochromatosis can cause diabetes as well as Down syndrome, Klinefelter syndrome, Turner syndrome and Prader Willi syndrome and rare immunmediated or genetic syndromes.
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PMID:[Other specific types of diabetes]. 2705 89

An accurate medical history and directed physical examination are essential in diagnosis of male infertility. We review the hormonal assessments and specific genetic analyses that are useful additional tests, and detail other evidence-based examinations that are available to help guide therapeutic strategies. By contrast with female infertility treatments-especially hormonal manipulations to stimulate or enhance oocyte production-spermatogenesis and sperm quality abnormalities are much more difficult to affect positively. In general, a healthy lifestyle can improve sperm quality. A few men have conditions in which evidence-based therapies can increase their chances for natural conception. In this second of two papers in The Lancet Diabetes and Endocrinology Series on male reproductive impairment, we examine the agreements and controversies that surround several of these conditions. When we are not able to cure, correct, or mitigate the cause of conditions such as severe oligozoospermia, non-remedial ductal obstruction, and absence of sperm fertilising ability, assisted reproductive technologies, such as in-vitro fertilisation (IVF) with intracytoplasmic sperm injection (ICSI), can be used as an adjunctive measure to allow for biological paternity. Not considered possible just two decades ago, azoospermia due to testicular failure, including 47,XXY (Klinefelter syndrome), is now treatable in approximately 50% of cases when combining surgical harvesting of testicular sperm and ICSI. Although genetic fatherhood is now possible for many men previously considered sterile, it is crucial to discover and abrogate causes as best possible, provide reliable and evidenced-based therapy, consider seriously the health and wellness of any offspring conceived, and always view infertility as a possible symptom of a more general or constitutional disease.
Lancet Diabetes Endocrinol 2017 07
PMID:Concepts in diagnosis and therapy for male reproductive impairment. 2739 70

Klinefelter syndrome is the most frequent chromosomal aneuploidy in males occurring in about 1 in 660 males. Epidemiological studies have demonstrated increased risk of type 1 diabetes and type 2 diabetes in adults with Klinefelter syndrome. There is only one previous report of neonatal diabetes in a patient with Klinefelter syndrome. We report transient neonatal diabetes due to a pathogenic heterozygous variant in KCNJ11 in a male infant with Klinefelter syndrome. A 78-day old male infant was noted to have sustained hyperglycemia with serum glucose ranging between 148 mg/dL (8.2 mmol/L) and 381 mg/dL (21.2 mmol/L) three days after undergoing a complete repair of an atrioventricular defect. Hemoglobin A1c was 6.6%. The patient was born at term with a birth weight of 2.16 kg following a pregnancy complicated by gestational diabetes that was controlled with diet. The patient was initially started on a continuous intravenous insulin drip and subsequently placed on subcutaneous insulin (glargine, human isophane and regular insulin). Insulin was gradually decreased and eventually discontinued at seven months of age. Chromosomal microarray at 11 weeks of age showed XXY and a panel-based, molecular test for neonatal diabetes revealed a pathogenic heterozygous variant c.685G>A (p.Glu229Lys) in KCNJ11. The patient is now 34 months old and continues to have normal fasting and post-prandial glucose and HbA1C levels. The patient will need prospective follow up for assessment of his glycemic status. To our knowledge this is the second reported case of neonatal diabetes in an infant with Klinefelter syndrome and the first due to a mutation in the KCNJ11 in a patient with Klinefelter syndrome.
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PMID:Transient Neonatal Diabetes due to a Mutation in KCNJ11 in a Child with Klinefelter Syndrome. 2876 2


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