Cases reported "Endocrine System Diseases"

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1/186. Histologically proven lymphocytic hypophysitis: spontaneous resolution and subsequent pregnancy.

    Of the 128 previously reported cases of lymphocytic hypophysitis, the diagnosis was histologically proven in 6 patients in whom the pituitary mass regressed spontaneously; only 1 subsequently became pregnant. Among six additional patients who became pregnant after a diagnosis of presumed lymphocytic hypophysitis, the disease was confirmed histologically in only three, two of whom underwent surgical debulking and one who had no follow-up imaging. To our knowledge, we describe the second patient with histologically proven lymphocytic hypophysitis, associated with adrenocorticotropic hormone (corticotropin) and prolactin deficiencies, in whom the pituitary mass regressed completely with physiologic hydrocortisone therapy only and in whom a spontaneous pregnancy occurred subsequently with no postpartum recurrence of the pituitary mass. This information lends credence to previous recommendations that, in the absence of visual field defects, surgical and corticosteroid therapy may be safely withheld, with periodic reassessment. ( info)

2/186. 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. ( info)

3/186. 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. ( info)

4/186. Extrahepatic manifestations of chronic hepatitis c.

    A by-product of increasing experience with patients infected with the hepatitis c virus is the awareness of a variety of extrahepatic syndromes that seem to be associated with HCV infection. Recent investigations into the relationship between the hepatitis c virus and human cells, particularly lymphocytes, have resulted in possible pathophysiological interactions that may begin to explain some of the extrahepatic manifestations of hepatitis c virus infection. In this review, we will discuss some of the potential interactions from both pathophysiological and clinical viewpoints. ( info)

5/186. 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. ( info)

6/186. 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. ( info)

7/186. Neonatal diabetes mellitus, enteropathy, thrombocytopenia, and endocrinopathy: Further evidence for an X-linked lethal syndrome.

    We describe an unusual family with a fatal genetic syndrome of neonatal diabetes mellitus (DM), enteropathy, endocrinopathy, and severe infections with variable thrombocytopenia. All affected individuals are male; X-linked inheritance is likely. The most common clinical features are neonatal DM, inanition, and enteropathy; a variety of other autoimmune phenomena are less frequent. Clinical variability within and among families is common, including lack of one or more cardinal features. The syndrome is usually fatal, but survival is sometimes possible with immunosuppressive therapy. Clinical variability and frequent new mutations may contribute to poor recognition and underreporting of similar cases. ( info)

8/186. 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. ( info)

9/186. 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. ( info)

10/186. 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. ( info)
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