Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0011849 (diabetes)
 277,896 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The association of vitiligo and other skin pigmentary disorders has been well shown with autoimmune diseases, i.e., systemic lupus erythematosus, rheumatoid arthritis. Furthermore, in certain diseases such as diabetes mellitus and adrenal insufficiency the incidence of pigmentation disorders is higher than in the general population. A total of 53 male and 46 female patients with a diagnosis of asthma, based on clinical findings and pulmonary function tests (PFT), were thoroughly examined for the presence of hypopigmented skin lesions and compared with 100 nonasthmatic controls with a similar demographic distribution. The patients were questioned regarding the history of steroid treatment in the past and present and subdivided into five groups based on the duration of therapy. Adrenal gland function was tested by 8:00 A.M. serum cortisol concentration in the group of patients with a history of steroid use as well as in some patients without this history. These patients were also tested for absolute lymphocyte and eosinophil count. Hypopigmented lesions were noted in 36.4% of asthmatic patients and in 11% nonasthmatic controls (p-value < 0.01). There were no differences in the location, but the size of lesions per patient was larger in the asthmatic than the control group. Twenty of 55 patients who had a history of steroid treatment in the past had hypopigmented skin lesions as compared to 16 of 42 patients who had no history of steroid treatment. We conclude that there is a higher coincidence of hypopigmented skin lesions, mainly vitiligo-type in asthmatic patients, compared to the general population, which is not related to a history of steroid treatment or incidence of adrenal insufficiency in these patients.
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PMID:Hypopigmented skin lesions associated with atopic dermatitis in asthma. 870 78

The diagnostic specificity of recombinant 21-hydroxylase autoantibodies (21OH-Ab) for Addison's disease was tested in adult patients with either Graves' disease (GD), insulin-dependent diabetes mellitus (IDDM), or polyendocrinopathy, as well as in healthy controls. Using a radiobinding assay with in vitro translated recombinant human 21-hydroxylase, we found 21OH-Ab in 24/28 (86%) idiopathic Addison patients, and using an immunofluorescence assay we found adrenal cortex autoantibodies (ACA) in 12/28 (43%) patients (P = 0.002). All the 12 ACA-positive sera were also positive for 21OH-Ab and ACA were found in 11/15 (73%) patients with less than 15 years and in 1/13 (8%) patients with 15-38 years of disease duration (P = 0.002). 21OH-Ab were present in 3/92 (3%) patients with GD, in 1/180 (0.6%) with IDDM and in 0/106 healthy subjects. The 21OH-Ab-positive GD and IDDM patients were also positive for ACA. None of 17 patients with polyendocrinopathy, but without Addison's disease, had 21OH-Ab. None of the 180 Belgian IDDM patients had Addison' s disease or developed an adrenal insufficiency at follow up. In two out of three Graves patients, the presence of 21OH-Ab was associated with clinical and biochemical signs of adrenal insufficiency. Of the 89 21OH-Ab-negative patients with GD none had Addison's disease at the time of blood sampling, and 79 were followed up for 5.6-7.5 years and none developed clinical signs of adrenal insufficiency. We conclude that the presence of 21OH-Ab in patients with endocrine autoimmune diseases is highly specific for Addison's disease.
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PMID:21-hydroxylase autoantibodies in adult patients with endocrine autoimmune diseases are highly specific for Addison's disease. Belgian Diabetes Registry. 903 Aug 73

Sporadic single case reports linking glucocorticoidlike activity to megestrol acetate have been reported in the literature. These findings have important implications for patient care. Adverse drug experience reports to the US Food and Drug Administration from 1984 through 1996 and a MEDLINE search of the literature from 1984 through 1996 provided the case reports. Five cases of Cushing syndrome, 12 cases of new-onset diabetes, and 16 cases of adrenal insufficiency were identified in association with megestrol therapy. Twelve cases in which preexisting diabetes was exacerbated and 17 cases of possible adrenal insufficiency were identified. Therapy with megestrol can result in clinical manifestations of glucocorticoidlike activity, including Cushing syndrome, diabetes, and adrenal insufficiency. Clinicians need to be aware of this association as these complications can be life-threatening if not recognized.
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PMID:Glucocorticoidlike activity of megestrol. A summary of Food and Drug Administration experience and a review of the literature. 925 Feb 25

The polyglandular autoimmune syndromes (PGA) are well known and are distinguished into type I, type II and type III. PGAI, also called APECED (autoimmune polyendocrinopathy, candidiasis and ectodermal dystrophy), is an autosomal recessive disorder, appearing in childhood and typically characterized by hypoparathyroidism (unusual in PGAII and PGAIII) and adrenal insufficiency. In APECED, autoimmune destruction of the pancreatic beta cells with development of insulin-dependent type 1 diabetes is possible, but less frequent than in the other PGAs, especially PGAII. The pathogenesis of this unique autoimmune disease is unknown. No HLA association seems to exist and genetic studies have assigned the autosomal APECED locus to chromosome 21. The case of a 28-years-old female suggesting the diagnosis of APECED, is presented, characterized by psycho-somatic abnormal development, teeth alterations, post-puberal gonadal failure with dystrophic hypoplasia of external genitalia, previous vaginal candidiasis, a slowly developing juvenile brittle diabetes. Intestinal malabsorption induced by Giardia lamblia occurred (probably resulting, like candidiasis, from immunological anergy). A strong familiarity linked to female sex was noticed (the mother, a sister, the little nice and some maternal female cousins being affected) while the father and a brother were healthy. Diabetes seems to be characterized by early onset and severe complications. In this patient no organo-specific antibodies were detected and the only immunologic disorder was a small decrease of CD3 and CD4/CD8 ratio, both CD4 and CD8 being at the lower normal range. This patient (and her female maternal relatives) needs a long-term follow-up in order to evaluate the function of endocrine glands and to initiate early treatment for hormonal deficits, as well as to detect the non-endocrine components of disease.
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PMID:[A rare case of juvenile diabetes mellitus associated with APECED (autoimmune poly-endocrinopathy, candidiasis and ectodermal dystrophy) with strong X-linked familial inheritance]. 930 48

Polyglandular autoimmune syndrome (PGAS) type 2 (Schmidt syndrome) is characterized by the association of primary adrenocortical insufficiency with autoimmune thyroid disease, and/or insulin-dependent diabetes mellitus (IDDM). In this report we describe the occurrence of two episodes of post-partum thyroiditis (PPT) after a first and second pregnancy as well the development acutely of adrenal insufficiency after a second pregnancy. A family history of autoimmune thyroid disease and IDDM as well as positive antiadrenal and antithyroid antibodies and HLA typing is evidence for an underlying polyendocrine autoimmune syndrome. This case report provides further evidence that the immune system that is suppressed in pregnancy to tolerate the fetal allograft can rebound post-partum to unmask polyendocrine autoimmune disorders such as adrenalitis and PPT in susceptible women.
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PMID:Adrenal insufficiency after recurrent post-partum thyroiditis (post-partum Schmidt syndrome): a case report. 954 15

Mitochondrial disorders can affect any organ system, but certain tissues, such as skeletal muscle, heart, and brain are more susceptible to oxidative phosphorylation defects because of their high energy requirements. Endocrinological manifestations, especially diabetes mellitus, are common but they rarely dominate the clinical picture. We describe a 5-year-old girl who died of primary adrenal insufficiency with a mitochondrial disease. Biochemical studies in muscle showed decreased respiratory chain enzyme activities. We detected a novel 7.0 kb mtDNA deletion in muscle form the proband, but not in her mother's white blood cells. Our findings further enlarge the spectrum of clinical presentation associated with mitochondrial DNA deletions.
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PMID:Primary adrenal insufficiency in a child with a mitochondrial DNA deletion. 958 67

A case of lymphocytic hypophysitis is described in a patients with Graves' disease and diabetes mellitus. The 62-year-old man was admitted to hospital with the complaints compatible with hyperthyroidism in April 1993. His medical history, physical examination, thyroid function tests, thyroid scintigraphy and thyroid ultrasonography revealed Graves' disease. The patient had also suffered from diabetes mellitus for three years. After this, the patient's progress was not monitored for two years. The patient presented himself again in September 1995 with complaints of hypothyroidism, hypogonadism and hypoadrenalism. Hormonal investigation showed panhypopituitarism. A magnetic resonance imaging of the pituitary gland disclosed an enlarged pituitary and a thickened infundibulum. The high intensity signal of the neurohypophysis was absent. Transsphenoidal hypophysectomy was performed which revealed a grey-white, relatively avascular pituitary mass. Histology showed diffuse infiltration of the anterior pituitary by numerous lymphocytes. The neurohypophysis also showed evidence of lymphocytic infiltration. On the basis of these findings we suggest that lymphocytic hypophysitis may be associated with Graves' disease.
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PMID:Lymphocytic hypophysitis in a patient with Graves' disease. 1088 54

A case of primary adrenal insufficiency with bilateral adrenal masses and meningitis due to disseminated cryptococcosis in a patient with mild non-insulin-dependent diabetes is presented. The diagnosis was made by fine-needle aspiration biopsy cytology. Although the meningitis responded to antifungal therapy, the bilateral adrenal gland enlargement did not change. Reflecting this, cryptococcal antigen titers became negative in CSF, but fell to 1:8 in serum. Although antifungal therapy continued, cryptococcal antigen titer increased both in CSF and serum for 50 days. Because the adrenal glands were the apparent focus for the persistent fungemia, bilateral adrenalectomy was performed. Antifungal therapy for an additional 15 months was needed to achieve negative serum cryptococcal antigen titers. Although adrenal insufficiency due to disseminated cryptococcosis is rare in healthy hosts, it should be included in differential diagnosis of unilateral and bilateral adrenal masses.
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PMID:Disseminated cryptococcosis associated with adrenal masses and insufficiency. 967 Oct 46

We present 2 cases of progressively severe Kearns-Sayre syndrome (KSS) with multisystemic affectation and atypical endocrine and cutaneous features, a 16-year-old patient (case 1) and a 5-year-old patient (case 2). Endocrine studies showed high glucose and glycohemoglobin concentrations with normal pancreatic reserve and low values of ACTH, cortisol, LH and FSH in case 1. Normal ACTH values with low concentrations of cortisol and PTH were observed in case 2. Southern blot analysis and PCR amplification revealed the presence of a deletion of approximately 6.7 kb in the mitochondrial DNA of both patients. Endocrinological studies suggest that adrenal insufficiency may be an additional feature of KSS that worsens the clinical evolution of the patients. In spite of a normal pancreatic reserve, insulin therapy should be considered in patients with diabetes mellitus of mitochondrial origin.
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PMID:Multiple endocrine involvement in two pediatric patients with Kearns-Sayre syndrome. 970 4

In 1% of women, premature ovarian failure develops by 40 years of age, a condition causing amenorrhea, infertility, sex steroid deficiency, and elevated gonadotropins. Early loss of ovarian function has significant psychosocial sequelae and major health implications. These young women have a nearly two-fold age-specific increase in mortality rate. Among women with spontaneous premature ovarian failure who have a normal karyotype, half have ovarian follicles remaining in the ovary that function intermittently. Indeed, pregnancies have occurred after the diagnosis of premature ovarian failure. Thus, premature ovarian failure should not be considered as a premature menopause. Young women with this disorder have a 5% to 10% chance for spontaneous pregnancy. Attempts at ovulation induction using various regimens fail to induce ovulation rates greater than those seen in untreated patients; however, oocyte donation for women desiring fertility is an option. Young women with premature ovarian failure need a thorough assessment, sex steroid replacement, and long-term surveillance to monitor therapy. Estrogen-progestin replacement therapy should be instituted as soon as the diagnosis is made. Androgen replacement should also be considered for women with low libido, persistent fatigue, and poor well-being despite taking adequate estrogen replacement. Women with premature ovarian failure should be followed up for the presence of associated autoimmune endocrine disorders such as hypothyroidism, adrenal insufficiency, and diabetes mellitus.
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PMID:Premature ovarian failure. 992 18


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