1/73. growth hormone insufficiency in a girl with the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is an inherited disease which may comprise many endocrine and non-endocrine components. GH insufficiency has not been recognised as a classical manifestation of this syndrome. We describe the case of a girl with APECED, who presented with four endocrine (hypoparathyroidism, Addison's disease, hypothyroidism, gonadal failure) and three non-endocrine components (candidiasis, ectodermal dystrophy and lichen ruber planus). In addition, growth failure was documented beginning at approximately 8 years; bone age was delayed and stimulated GH peaks after clonidine and arginine were 2.2 and 9.2 microg/l, respectively. A partial empty sella was found on a computed tomography scan of the hypothalamic-pituitary region. At 10.5 years rhGH therapy was started and height gain of 26 cm was observed after 2.7 years of treatment. puberty started at 11.2 years and menarche occurred at 12.7 years. At 13.25 years rhGH therapy was discontinued owing to frequent hypocalcemic crises; serum IGF-1 levels were persistently low in the following years (between 160 and 180 microg/l, normal range for age 250-600 microg/l). The patient attained a final height of 160.8 cm, which was appropriate for her target height. The presence of lichen ruber planus and GH insufficiency probably secondary to empty sella are two unusual findings in patients with APECED.- - - - - - - - - - ranking = 1keywords = pituitary (Clic here for more details about this article) |
2/73. Case study: missed diagnosis and mistreatment of unrecognized comorbid graves disease.Comorbid medical conditions are known to complicate the course and treatment of psychiatric disorders. This case study provides the first published report of graves disease exacerbating the symptoms of Tourette's disorder and attention-deficit hyperactivity disorder (ADHD). The lack of diagnosis of the graves disease compromised the efficacy of the treatment of Tourette's disorder and ADHD. This case study supports the need to the consider increased risk of a second immunoendocrinological disorder in the presence of diabetes mellitus type I, one of the several disorders that comprise the syndrome of polyglandular autoimmune endocrinopathy type II.- - - - - - - - - - ranking = 0.045595014165581keywords = gland (Clic here for more details about this article) |
3/73. Primary biliary cirrhosis and type II autoimmune polyglandular syndrome.A 45-year-old female was diagnosed with Hashimoto's thyroiditis in 1976 and Addison's disease in 1979. At that time, her antimitochondrial antibody (AMA) level was elevated at 1:32. She subsequently developed premature ovarian failure and type I diabetes mellitus. In 1996, she became jaundiced with a cholestatic enzyme pattern. AMA was positive at a titre of 1:256. A liver biopsy confirmed the diagnosis of primary biliary cirrhosis (PBC). She underwent a liver transplantation in January 1998. This is the first report of PBC in association with type II autoimmune polyglandular syndrome. The association of PBC with other organ-specific autoimmune diseases supports an immune-mediated pathogenesis and may have implications in further studies of PBC.- - - - - - - - - - ranking = 0.22797507082791keywords = gland (Clic here for more details about this article) |
4/73. A treatable cause of ataxia in children.An 11-year-old black male presenting with severe subacute sensory ataxia, unusual skin hyperpigmentation, megaloblastic anemia, low serum B12 levels, and an abnormal part I schilling test was diagnosed with pernicious anemia in the context of a polyglandular syndrome. intrinsic factor and thyroid microsomal antibodies were positive, and thyroid-stimulating hormone levels were undetectable. There was a strong familial aggregation because the mother, a maternal aunt, the maternal grandfather, and the maternal great-grandmother had been diagnosed with pernicious anemia, albeit of unspecified etiology. Spinal magnetic resonance imaging (MRI) demonstrated extensive demyelination of the posterior columns along the entire length of the cord, as well as areas of contrast enhancement. Treatment with cobalamin produced complete remission of the neurologic deficits and normalization of the MRI findings in the short space of 2 months. Although rare, childhood pernicious anemia is a treatable disease that should be included in the differential diagnosis of the sensory ataxias in children. In this article, we review the causes of pernicious anemia in children and discuss the MRI findings.- - - - - - - - - - ranking = 0.045595014165581keywords = gland (Clic here for more details about this article) |
5/73. 32-year old patient presenting with autoimmune polyglandular syndrome.A 32-year-old student reported fatigue and malaise since two months in the absence of specific symptoms. Clinical examination and extensive laboratory testing revealed no abnormalities at his first presentation. Some weeks thereafter, on re-admission, hyperpigmentation suggestive of Addison's disease was observed and pathognomonic autoantibodies directed against the thyroid gland and the adrenal cortex were detected. Further evaluation led to the diagnosis autoimmune polyglandular deficiency syndrome, also named "Schmidt syndrome", comprising adrenocortical insufficiency (Addison's disease) and lymphocytic thyroiditis (Hashimoto thyroiditis). The diagnosis of polyglandular insufficiency is often delayed due to non-specific symptoms at early disease stages and progression may be rapid, culminating in Addisonian crisis under physical stress or infection, requiring immediate high-dose hormone replacement therapy. Hence, careful re-examination is mandatory to ensure adequate treatment before life-threatening complications occur. Nowadays this type of disease is classified as autoimmune polyglandular syndrome type II (APS type II) with an increased risk of developing insulin-dependent diabetes mellitus (IDDM), vitiligo, alopecia, pernicious anaemia, coeliac disease, myasthenia gravis and primary hypogonadism. The cause of the disease remains obscure but in addition to an autosomal dominant trait with variable penetrance some hints at viral infection triggering the disease process exist.- - - - - - - - - - ranking = 0.36476011332465keywords = gland (Clic here for more details about this article) |
6/73. Coexistence of common variable immunodeficiency and autoimmune polyglandular syndrome type 2.A six year-old boy with common variable immunodeficiency developed insulin dependent diabetes mellitus, autoimmune thyroiditis, and total alopecia leading to the diagnosis of autoimmune polyglandular syndrome type 2. Previously unreported co-occurence of these two entities may be explained by strong autoimmunity and HLA association of both conditions.- - - - - - - - - - ranking = 0.22797507082791keywords = gland (Clic here for more details about this article) |
7/73. Polyserositis as a rare component of polyglandular autoimmune syndrome type II.Polyglandular autoimmune (PGA) syndromes (types I and II) may affect various endocrine and non-endocrine organs in the body. In the commoner PGA type II, primary adrenal insufficiency, autoimmune thyroid disease and type I diabetes mellitus are the most frequent manifestations. serositis with pericardial or pleural involvement is not a well known component of the disease. Here, we report a 21-year-old man who first presented with a pleuropericardial effusion and Graves' disease, and who then developed type I diabetes mellitus.- - - - - - - - - - ranking = 0.22797507082791keywords = gland (Clic here for more details about this article) |
8/73. growth hormone deficiency in autoimmune polyglandular disease type 1.This is a case report of 2 patients who were diagnosed to have autoimmune polyglandular disease type 1. Both developed mucocutaneous candidiasis, hypoparathyroidism, vitiligo, and adrenocortical insufficiency. Both were noticed to have subnormal linear growth velocity and delayed bone age. Both showed subnormal stimulated serum growth hormone values indicating growth hormone deficiency. The first case showed favorable response to growth hormone therapy.- - - - - - - - - - ranking = 0.22797507082791keywords = gland (Clic here for more details about this article) |
9/73. Systemic lupus erythematosus with polyglandular autoimmune syndrome type II: report of an unusual case.A patient with systemic lupus erythematosus (SLE) is described who had associated autoimmune thyroiditis with subclinical hypothyroidism and idiopathic Addison's disease. The presence of autoimmune thyroid disease and Addison's disease could classify her as having polyglandular autoimmune syndrome (PGAS) type II, which is the commonest of the three types of this syndrome. However, the additional presence of SLE in PGAS type II has not been described earlier. This patient appears to be the first such case.- - - - - - - - - - ranking = 0.22797507082791keywords = gland (Clic here for more details about this article) |
10/73. Autoimmune polyglandular endocrinopathy and anterior hypophysitis in a 14 year-old girl presenting with delayed puberty.We report a 14 year-old peripubertal girl who presented at our clinic with the primary complaint of delayed puberty. She was asymptomatic except for vague complaints of fatigue. physical examination was significant for mucosal hyperpigmentation and lack of secondary sexual characteristics. Laboratory evaluation revealed a morning cortisol concentration of <0.1 microg/dl (normal range [n.r.]: 4.3-22.4 microg/dl) and a simultaneous ACTH concentration of 2 pg/ml (n.r. 25-62 pg/ml); FSH 66.8 IU/l (n.r. for age: 1-12.8 IU/l); LH 41.1 IU/l (n.r. for age: 1-12 IU/l); E2 38 pg/ml (n.r. for age: 7-60 pg/ml). She had a flat cortisol response to an ACTH stimulation test. MRI of the pituitary gland failed to reveal a lesion. plasma renin activity, thyroid function tests, parathyroid hormone, prolactin, IGF-I, IGFBP-3 concentrations and serum electrolytes were normal. However, her urinary sodium concentration was high. She was diagnosed with autoimmune polyglandular endocrinopathy including ovarian failure, adrenal failure and autoimmune anterior hypophysitis presenting as isolated ACTH deficiency. We emphasize that autoimmune etiology should be considered in the differential diagnosis of delayed puberty and ovarian failure and that the presence of other endocrinopathies should be searched for even in asymptomatic patients.- - - - - - - - - - ranking = 1.2735700849935keywords = pituitary, gland (Clic here for more details about this article) |
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