1/6. A case of primary amenorrhea, diabetes and anosmia.This case details a patient with primary amenorrhea with an unusual cause. She presented at age 16 with short stature, minimal sexual development and no prior menses. Her history was significant for poorly controlled type 1 diabetes. She had been evaluated previously for growth hormone deficiency, and had received a short course of growth hormone therapy. Of greatest significance was the fact that she had also had a decreased sense of smell since her youth. Although a previous computerized tomography scan had been reported as normal, follow-up magnetic resonance imaging demonstrated the absence of olfactory bulbs. smell testing confirmed the absence of smell and testing of gonadotropin releasing hormone demonstrated an inadequate response. All of these features suggested kallmann syndrome. This syndrome commonly presents with delayed onset of puberty and decreased or absent sense of smell. There are also many associated features, and the disease is remarkable for its great genotypic and phenotypic variability. Current understanding of its pathogenesis, the commonly associated features of kallmann syndrome and the impact of diabetes on growth and sexual development are reviewed.- - - - - - - - - - ranking = 1keywords = diabetes (Clic here for more details about this article) |
2/6. Autosomal dominant insulin resistance syndrome due to postbinding defect.We investigated a family in which at least 4 men in 3 generations had a syndrome of obesity, mild mental retardation, delayed puberty, macroorchidism, acanthosis nigricans, hyperinsulinemia, and later overt insulin-resistant diabetes mellitus (non-insulin-dependent diabetes mellitus, NIDDM). The patients have markedly curly scalp hair, deficient face and body hair. Their teeth were healthy and normal in size and position. The clinical and biochemical findings and characteristics of the insulin receptors investigated in fibroblasts are reported. There was normal insulin binding to fibroblasts in the 2 brothers and their father. However, insulin-stimulated rna synthesis was decreased as compared to that of normal control individuals. These findings suggest a postbinding defect of insulin action. The pedigree documents an autosomal dominant mode of inheritance. The diagnosis is of practical importance since it enables medical supervision of gene carriers in a preclinical state of atherosclerotic complications and overt diabetes. The findings in this family have relevance also to the explanation of familial mild mental retardation and to the study of different forms of insulin resistance due to a disturbance in biosignal transfer.- - - - - - - - - - ranking = 2.2936297971558keywords = diabetes mellitus, diabetes, mellitus (Clic here for more details about this article) |
3/6. Familial syndrome of endocrine and neuroectodermal abnormalities.We report on a previously undescribed combination of endocrine and neuroectodermal abnormalities in four sibs from Burma. These abnormalities include low growth hormone levels in response to provocative stimuli, delayed puberty associated with prepubertal levels of gonadotropins in the males and pubertal levels of gonadotropins in the females, type II diabetes mellitus with elevated insulin levels, mild mental retardation, sensori-neural deafness, and alopecia without pili torti. They also had a characteristic facial appearance and fleshy hands and feet. This family appears to have a previously undescribed combination of endocrine and neuroectodermal abnormalities.- - - - - - - - - - ranking = 1.0634815652446keywords = diabetes mellitus, diabetes, mellitus (Clic here for more details about this article) |
4/6. A novel 7301-bp deletion in mitochondrial dna in a patient with kearns-sayre syndrome, diabetes mellitus, and primary amenorrhoea.We report a 27-year-old woman with a form of mitochondrial myopathy including chronic progressive external opthalmoplegia, retinal pigmentary dystrophy, cerebellar ataxia, and cardiac conduction block (kearns-sayre syndrome). At age 13 years a cardiac pacemaker was implanted. She also had sensineural hearing loss, delayed puberty, and primary amenorrhoea. She was weelchair-bound since the age of 20 years. At age 27, insulin-dependent diabetes mellitus and osteoporosis were diagnosed. Insulin treatment was started and associated endocrinopathies were investigated. dna analysis identified a novel 7301-bp deletion in mitochondrial dna, ranging from position 6530 to 13 831 corroborating the diagnosis of kearns-sayre syndrome.- - - - - - - - - - ranking = 5.3174078262228keywords = diabetes mellitus, diabetes, mellitus (Clic here for more details about this article) |
5/6. Hypernatraemia, diabetes mellitus, hyperprolactinaemia, retarded growth and delayed puberty in a 14 year old girl. Effect of bromocriptine treatment.Investigations in a 14 year old girl with arrested growth for 2 years, delayed pubertal development, hypernatraemia without thirst, diabetes mellitus and hyperlipaemia are reported. The hypernatraemia was accompanied by a low vasopressin concentration with an abnormal response to thirst, high plasma renin but normal plasma aldosterone concentrations. Treatment with vasopressin and increased fluid intake decreased serum sodium levels. serum gonadotrophins were low; GH response during an insulin tolerance test was subnormal and basal serum Prl concentration was elevated. Bone age, thyroid function and adrenal function were normal. After initiation of bromocriptine treatment her growth accelerated and regular menstruations commenced. The serum gonadotrophin levels increased and showed pulsatile release. A hypothalamic disorder is suggested, but no cerebral lesion could be demonstrated.- - - - - - - - - - ranking = 5.3174078262228keywords = diabetes mellitus, diabetes, mellitus (Clic here for more details about this article) |
6/6. Expectant management of a hypothalamic mass: a case report.BACKGROUND: Although hypothalamic masses are usually benign, they may infiltrate hypothalamic-pituitary structures, resulting in multiple endocrinopathies, optic nerve damage, increased intracranial pressure, and death. Controversy exists regarding proper management. CASE: A young woman with a hypothalamic mass suggestive of craniopharyngioma presented with pubertal delay and hypothalamic amenorrhea without evidence of progression over 4 years. She was given sex steroid replacement and observed, thereby avoiding surgery or radiotherapy. CONCLUSION: Large hypothalamic masses may present with minimal signs and symptoms that are not life threatening. Without more serious symptoms, these can be managed expectantly to avoid the risks of panhypopituitarism, diabetes insipidus, vision loss, and cerebrovascular accidents resulting from any therapy.- - - - - - - - - - ranking = 0.16666666666667keywords = diabetes (Clic here for more details about this article) |