Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0011854 (type 1 diabetes)
 20,749 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Metreleptin is an analogue of the human hormone leptin being developed by Amylin Pharmaceuticals (a subsidiary of Bristol-Myers Squibb) for the subcutaneous treatment of metabolic disorders including lipodystrophy. The compound is expected to improve insulin sensitivity, hypertriglyceridaemia and hyperglycaemia in patients with lipodystrophy who are unresponsive to conventional treatment. Metreleptin has been approved in Japan as a leptin therapy for the treatment of lipodystrophy. Amylin has also completed a submission for regulatory approval to the US FDA for metreleptin in the treatment of diabetes mellitus and/or hypertriglyceridaemia in patients with rare forms of lipodystrophy. Clinical development of the drug is also underway in the USA for the treatment of type 1 diabetes. Amgen was previously assessing the use of metreleptin as a treatment for amenorrhoea; however, it appears that development in this indication has been discontinued. This article summarizes the milestones in the development of metreleptin leading to this first approval for lipodystrophy.
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PMID:Metreleptin: first global approval. 2374 Apr 12

Polycystic ovary syndrome (PCOS) is a common heterogeneous endocrine disorder characterized by irregular menses, hyperandrogenism, and polycystic ovaries. The prevalence of PCOS varies depending on which criteria are used to make the diagnosis, but is as high as 15%-20% when the European Society for Human Reproduction and Embryology/American Society for Reproductive Medicine criteria are used. Clinical manifestations include oligomenorrhea or amenorrhea, hirsutism, and frequently infertility. Risk factors for PCOS in adults includes type 1 diabetes, type 2 diabetes, and gestational diabetes. Insulin resistance affects 50%-70% of women with PCOS leading to a number of comorbidities including metabolic syndrome, hypertension, dyslipidemia, glucose intolerance, and diabetes. Studies show that women with PCOS are more likely to have increased coronary artery calcium scores and increased carotid intima-media thickness. Mental health disorders including depression, anxiety, bipolar disorder and binge eating disorder also occur more frequently in women with PCOS. Weight loss improves menstrual irregularities, symptoms of androgen excess, and infertility. Management of clinical manifestations of PCOS includes oral contraceptives for menstrual irregularities and hirsutism. Spironolactone and finasteride are used to treat symptoms of androgen excess. Treatment options for infertility include clomiphene, laparoscopic ovarian drilling, gonadotropins, and assisted reproductive technology. Recent data suggest that letrozole and metformin may play an important role in ovulation induction. Proper diagnosis and management of PCOS is essential to address patient concerns but also to prevent future metabolic, endocrine, psychiatric, and cardiovascular complications.
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PMID:Epidemiology, diagnosis, and management of polycystic ovary syndrome. 2437 99

Reproductive dysfunction is a common but little studied complication of diabetes. The spectrum of reproductive health problems in diabetes is broad, and encompasses delayed puberty and menarche, menstrual cycle abnormalities, subfertility, adverse pregnancy outcomes, and potentially early menopause. Depending on the age at diagnosis of diabetes, reproductive problems can manifest early on in puberty, emerge later when fertility is desired, or occur during the climacteric period. Historically, women with type 1 diabetes have frequently had amenorrhoea and infertility, due to central hypogonadism. With the intensification of insulin therapy and improved metabolic control, these problems have declined, but do persist. Additional reproductive implications of contemporary diabetes management are now emerging, including polycystic ovary syndrome and hyperandrogenism, which are underpinned by insulin action on the ovary. The sharp rise in type 2 diabetes incidence in youth suggests that more women of reproductive age will encounter diabetes-related reproductive problems in their lifetimes. With an ever increasing number of young women living with diabetes, clinicians need to be aware of and equipped for the challenges of navigating reproductive health concerns across the lifespan.
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PMID:Diabetes: a metabolic and reproductive disorder in women. 3163 66

A 36-year-old female presented with lethargy, anorexia, nausea, hyperpigmentation, weight loss and amenorrhea for six months. On examination, she had hyperpigmentation of face, hands and oral mucosa. Investigations revealed adrenal insufficiency and subclinical hyperthyroidism with elevated anti-thyroid peroxidase antibodies. Adrenal insufficiency in combination with Grave's disease and/or type 1 diabetes mellitus occurs in type 2 autoimmune polyglandular syndrome. It is a polygenic disorder occurring due to mutations in the human leukocyte antigen complex on chromosome 6. The patient was treated with oral hydrocortisone which led to improvement in all the symptoms.
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PMID:Type 2 Autoimmune Polyglandular Syndrome Presenting with Hyperpigmentation and Amenorrhea. 3245 83


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