Cases reported "Endocrine System Diseases"

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1/111. Psychoneuroendocrine aspects of temporolimbic epilepsy. Part III: case reports.

    Many reproductive steroids have neuroactive effects that can modulate neuronal excitability and influence emotions. Emotional disorders may result when 1) abnormal endocrine states interact with normal brain, 2) normal endocrine states interact with abnormal brain, and 3) abnormal endocrine states interact with abnormal brain. An understanding of these pathogenetic relationships and the potential therapeutic role of reproductive hormones should lead to a more effective and comprehensive management of women and men with anxiety and mood disorders.
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2/111. Klinefelter's syndrome accompanied by mixed connective tissue disease and diabetes mellitus.

    We report a rare case of Klinefelter's syndrome (KS) with mixed connective tissue disease (MCTD), diabetes mellitus (DM) and several endocrine disorders. A 57-year-old man presented with polyarthritis and tapering fingers with Raynaud's phenomenon on admission. In addition to a karyotype of 47, XXY, a marked restrictive change in respiratory functional test, a myogenic pattern in electromyogram, the positive tests for anti-RNP antibody indicated that this was a case of KS complicated with MCTD. The patients also presented DM with insulin resistance, hyperprolactinemia, slight primary hypothyroidism and hypoadrenocorticism. The mechanism for these coincidences remains to be elucidated.
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ranking = 0.14285714285714
keywords = endocrine
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3/111. Thalamic and hypothalamic tumors of childhood: endocrine late effects.

    Children who have received chemotherapy and radiation therapy for treatment of thalamic/hypothalamic tumors are at risk for late effects, specifically endocrine dysfunction. Evaluation of growth and pubertal development, thyroid function and integrity of the hypothalamic-pituitary-adrenal axis should be undertaken in a prospective manner. Issues of metabolic disturbances such as obesity, altered body composition/bone density as well as ultimate fertility also need to be addressed by ongoing prospective evaluations.
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ranking = 0.71428571428571
keywords = endocrine
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4/111. Endocrine disorders in two sisters affected by melas syndrome.

    A variety of endocrine and metabolic defects, including hypothalamopituitary hypofunction and diabetes mellitus, has been reported in association with mitochondrial disorders. We describe two sisters affected by mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS) syndrome in whom dna analysis showed an A-->G transition at the 3243rd nucleotide position on the transfer RNALeu(UUR) gene with 65% and 45% of mutant-type mitochondrial dna present in the blood cells of the younger and the older sister, respectively. The younger sister had severe involvement of the central nervous system with mental retardation, epilepsia partialis continua, and strokelike episodes. Endocrine investigations showed an extensive neuroendocrine dysfunction with growth hormone deficiency, hypothalamopituitary hypothyroidism, prepubertal gonadotropin levels, and absence of any secondary sexual characteristics at the age of 12 6/12 years. The neurologically normal older sister was affected by diabetes mellitus and had normal hypothalamopituitary function. Our report confirms that the endocrine system can be affected differently by the same mitochondrial dna mutation, depending on the heteroplasmia phenomenon. A complete endocrine evaluation must be performed in patients affected by mitochondrial disease and the existence of a mitochondrial disorder should be taken into account in patients with endocrine abnormalities, even if neuromuscular signs are lacking.
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ranking = 0.71428571428571
keywords = endocrine
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5/111. Two patients with Kabuki syndrome presenting with endocrine problems.

    A 4 year-old boy with mental retardation and seizures presented to the pediatric endocrinology clinic because of a history of hypoglycemia; a 16 month-old girl with developmental delay presented with bilateral breast tissue enlargement; in both, a diagnosis of Kabuki syndrome was made because of typical facial features, neurodevelopmental delay and other stigmata consistent with Kabuki syndrome. Kabuki syndrome is a mental retardation-malformation syndrome affecting multiple organ systems with a broad spectrum of abnormalities. The facial features of the syndrome are specific and independent of ethnic origin. In addition to presenting with endocrine problems, the patients reported here exhibit some novel findings such as congenital alopecia areata and hyperpigmented skin lesion. The diagnosis of Kabuki syndrome should be considered in patients with hypoglycemia or premature thelarche when associated with developmental delay and a peculiar facies.
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keywords = endocrine
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6/111. Growth-arrest and inhomogenous echotexture of the affected testis after tumor enucleation for unilateral leydig cell tumor.

    The authors report on an 8-year-old boy with unilateral left-sided leydig cell tumor. After enucleation of the tumor, endocrine disturbances resolved. Long-time follow-up for more than 7 years was characterized by growth-arrest of the affected gonad and the unchanged appearance of a circumscribed hypoechogenic residual lesion within the testis.
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ranking = 0.14285714285714
keywords = endocrine
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7/111. Polyglandular endocrine failure in a patient with amyloidosis secondary to familial mediterranean fever.

    familial mediterranean fever (FMF) is 1 of the major causes of secondary amyloidosis. Renal involvement is the main clinical complication and it mostly presents with nephrotic syndrome and chronic renal failure. Although deposition of amyloid has been reported in several endocrine glands such as the adrenal, thyroid, and testes, clinically significant functional impairment is uncommon. Herein, we describe a patient in whom the diagnosis of FMF was based on molecular screening and who presented with recurrent hypoglycemic attacks and extensive amyloid deposition affecting various organ function including adrenal, thyroid, parathyroid, testes, intestinal system, and the heart.
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ranking = 0.71428571428571
keywords = endocrine
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8/111. Endocrine aspects of eating disorders in adolescents.

    eating disorders are an important health concern among adolescents. Young women frequently present with signs and symptoms of anorexia nervosa and bulimia nervosa. These disorders represent clinically significant illnesses with serious and sometimes permanent medical complications, including a number of endocrine conditions, that, in general, result from the body s adaptive response to malnutrition. Examples include disorders of metabolism, cortisol and leptin regulation, fluid and electrolyte homeostasis, thyroid function, glucose regulation, growth and development, and reproductive function with the development of amenorrhea as well as the risk of osteoporosis.
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ranking = 0.14285714285714
keywords = endocrine
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9/111. Endocrinological evaluation and hormonal therapy for women with difficult acne.

    acne vulgaris is the most common skin condition observed in the medical community. Convention is to treat this condition with a combination of comedolytics, anti-inflammatory and antibacterial topical agents, or if indicated, oral antibiotics or retinoids. In addition to these therapies, hormonal therapy is potentially an option in women whose acne is not responding to conventional treatment or if signs of endocrine abnormalities are present. This paper focuses on the use of hormonal therapy in women with severe or recalcitrant acne. After a brief description of the pathogenesis of acne vulgaris, and the conventional treatment modalities, indications for hormonal therapy are discussed. This is followed by an outline of a suggested endocrine evaluation, and interpretation of the evaluation test results. Various options for hormonal therapy are then described, including a further discussion of oral contraceptives (OCs) in the treatment of acne.
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ranking = 0.28571428571429
keywords = endocrine
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10/111. Multiple endocrine disorders and Rathke's cleft cyst with Klinefelter's syndrome: a case report.

    A 46-year-old Japanese male was admitted for the evaluation of severe hypertension. He was obese and had a eunuchoidal body habitus. Chromosomal analysis revealed a 46, XY/47, XXY karyotype. serum LH, FSH and testosterone levels were low, indicating hypogonadotropic hypogonadism. Endocrinological dynamic tests disclosed presence of hypothalamic panhypopituitarism, partial diabetes insipidus, type 2 diabetes mellitus and low renin essential hypertension. brain computed tomography and magnetic resonance imaging revealed intra- and extrasellar masses. Histological examination of the tissue obtained at transsphenoidal surgery showed a Rathke's cleft cyst (RCC). To the best of our knowledge, this is the first case report of mosaic Klinefelter's syndrome accompanied by symptomatic RCC, type 2 diabetes mellitus and low renin essential hypertension.
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ranking = 0.57142857142857
keywords = endocrine
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