1/22. Relapsing Whipple's disease presenting with hypopituitarism.A 44-year-old man with a history of Whipple's disease 8 years ago presented with recurrent grand mal seizures and signs of hypopituitarism on physical examination. magnetic resonance imaging of the brain revealed a hypothalamic lesion of 1 cm diameter in the region of the rostral infundibulum. hypopituitarism was confirmed by low levels of serum cortisol, free testosterone and free thyroxine without an elevated TSH. Whipple encephalitis with hypothalamic involvement was suggested and verified by positive polymerase chain reaction (PCR) for tropheryma whippelii in the cerebrospinal fluid. PCR for T. whippelii has become an important diagnostic tool for establishing the diagnosis of Whipple's disease especially in patients with unusual presentations and if the diagnosis cannot be confirmed histologically. Whipple's disease should be included in the differential diagnosis in hypopituitarism caused by infectious disease.- - - - - - - - - - ranking = 1keywords = physical examination, physical (Clic here for more details about this article) |
2/22. Lymphocytic hypophysitis in a patient with systemic lupus erythematosus.A case of lymphocytic hypophysitis in a patient with systemic lupus erythematosus is described. A 20-year-old woman was admitted to our hospital with generalized myalgia and facial rash in May 1998. The patient had a medical history, physical examination, and laboratory findings compatible with systemic lupus erythematosus (SLE). headache and nausea had developed 3 months previously and worsened over the following months. Hormonal investigation showed hypopituitarism except for prolactin. A magnetic resonance image of the brain showed a mass lesion in the pituitary fossa. A trans-sphenoidal surgical procedure was performed which revealed a dark-yellowish hematoma. Microscopic examination showed diffuse infiltration of lymphocytes and plasma cells with fibrosis in the anterior pituitary. Post-operatively the patient's headaches and nausea resolved. This indicates that lymphocytic hypophysitis may be associated with SLE.- - - - - - - - - - ranking = 0.19074172472217keywords = physical (Clic here for more details about this article) |
3/22. A case of torsade de pointes associated with hypopituitarism due to hemorrhagic fever with renal syndrome.We describe a 51-yr-old man presenting with syncope due to torsade de pointes. The torsade de pointes was refractory to conventional medical therapy, including infusion of isoproterenol, MgSO4, potassium, lidocaine, and amiodarone. His past history, physical findings, and hormone study confirmed that QT prolongation was caused by anterior hypopituitarism that developed as a sequela of hemorrhagic fever with renal syndrome. The long QT interval with deep inverted T wave was completely normalized 4 weeks after starting steroid and thyroid hormone replacement. Hormonal disorders should be considered as a cause of torsade de pointes, because this life-threatening arrhythmia can be treated by replacing the missing hormone.- - - - - - - - - - ranking = 0.19074172472217keywords = physical (Clic here for more details about this article) |
4/22. Two tumors detected by thyroid assessment in two children.OBJECTIVE: To describe the early detection of two tumors in two children by recognition of unusual features in initial thyroid assessments. methods: We present the clinical findings and results of laboratory studies in two children. In addition, we describe RET proto-oncogene studies in one of them. RESULTS: A 14.5-year-old boy was referred for assessment because of short stature in conjunction with lack of physical growth and development. His physical examination was remarkable for height at the 50th percentile (height age, 11.5 years), weight at the 50th percentile (weight age, 13 years), and prepubertal male status. Pertinent laboratory findings were a normal thyroid-stimulating hormone (TSH) level but low free thyroxine (FT4) index. These findings prompted an immediate magnetic resonance imaging study of the head. A parasellar tumor was detected and removed; histopathologic examination revealed that it was a craniopharyngioma. The patient requires lifelong multihormonal therapy for his panhypopituitarism and has responded with physical growth. Our second patient, a 7.5-year-old girl, was referred because of a painless left thyroid nodule of 4 months' duration. Her physical examination was remarkable for (1) upper lip swelling, (2) intermittent rash, and (3) a goiter with painless mobile left and right nodules. Normal levels of TSH and FT4, serum calcitonin of 6,192 pg/mL, and a fine-needle biopsy specimen that stained strongly for calcitonin were obtained at her first clinic visit. A total thyroidectomy was performed and confirmed the presence of medullary thyroid carcinoma. Genetic studies showed that she was positive for the RET multiple endocrine neoplasia IIB mutation. After 4 years of follow-up, the patient had serum calcitonin levels that remained low (<2.2 pg/mL). CONCLUSION: attention to thyroid physical findings and laboratory studies can promptly lead to correct diagnoses and management of some rare and life-threatening tumors in children.- - - - - - - - - - ranking = 2.5722251741665keywords = physical examination, physical (Clic here for more details about this article) |
5/22. Preoperative hyponatremia as a clinical characteristic in elderly patients with large pituitary tumor.This study investigated the pathophysiology of preoperative hyponatremia in elderly patients with a large pituitary tumor. The tumor size, initial symptoms, and preoperative pituitary hormonal function were analyzed in 96 patients, consisting of 82 younger than 70 years old (mean age 49.7 years) and 14 older than 70 years old (mean age 72.0 years). There was no difference in tumor size between the two age groups. The initial symptom of all younger patients was visual disturbance. Preoperative hormonal evaluations revealed subclinical panhypopituitarism in four patients (4.9%). Five of the 14 older patients had severe hyponatremia (107-117 mEq/l) based on panhypopituitarism, and four of these five patients showed consciousness disturbance as the initial symptom, initiated by physical and/or psychological stress, or occurrence of intratumoral hemorrhage. Preoperative subclinical panhypopituitarism was found in another patient. The overall occurrence rate of preoperative panhypopituitarism in the older patients was 42.9%. The difference in the frequency of preoperative panhypopituitarism was statistically significant between the two groups. Preoperative severe hyponatremia associated with a large pituitary tumor is characteristic of elderly patients. The number of receptors for adrenocorticotropic hormone in the adrenal cortex decreases during the aging process. Additional physical and/or psychological stress prompts pituitary dysfunction in such patients, causing the manifestation of acute symptoms of adrenal insufficiency based on panhypopituitarism. Primary care using high dose hydrocortisone and electrolyte fluid is critical.- - - - - - - - - - ranking = 0.38148344944433keywords = physical (Clic here for more details about this article) |
6/22. Long-term follow-up of childhood-onset hypopituitarism in patients with the PROP-1 gene mutation.OBJECTIVE: The PROP-1 gene mutation is a rare disorder leading to combined pituitary hormone deficiencies over time. The aim was to analyze the clinical picture of 40 years of an almost untreated PROP-1 gene mutation. methods: We describe the clinical and hormonal data of 2 brothers from childhood to adulthood as well as imaging procedures (MRI of the pituitary gland, bone mineral density by QCT and DPX). The PROP-1 gene mutation (301-302delAG) was confirmed by dna sequencing. RESULTS: Although long-standing untreated hypopituitarism was present, there was normal physical and professional activity. Bone mineral density was low only in 1 patient. Adrenocortical deficiency occurred late at 45 and 39 years. CONCLUSIONS: The biological evolution of the PROP-1 gene mutation illustrates the importance of continuous care for these patients. Hormonal deficiencies do not necessarily lead to the same phenotype as is obvious in differences of bone age and bone mineral density.- - - - - - - - - - ranking = 0.19074172472217keywords = physical (Clic here for more details about this article) |
7/22. Morning glory syndrome associated with posterior pituitary ectopia and hypopituitarism.PURPOSE: To report a patient with morning glory syndrome in combination with posterior pituitary ectopia and to emphasize the need for early recognition of this syndrome as an important step towards the diagnosis and treatment of the systemic anomalies that may be associated with it. methods: We present a 7-year-old boy who showed short stature, nystagmus, inward deviation and low vision. Ophthalmological and general physical examinations, further endocrine evaluation and magnetic resonance imaging (MRI) of the brain and sella turcica were performed. RESULTS: Both fundi showed symptoms of morning glory syndrome. The discs were pink and deeply excavated, and were surrounded by a ring of chorioretinal pigmentary disturbance. magnetic resonance imaging revealed the absence of the infundibulum and posterior pituitary ectopia. Growth hormone studies confirmed the diagnosis of growth hormone deficiency. Therapy with recombinant human growth hormone was initiated. CONCLUSIONS: Although most cases of morning glory syndrome occur as isolated ocular abnormalities, it may occur in association with systemic anomalies, including posterior pituitary ectopia and hypopituitarism. A complete general physical examination and growth evaluation is important for early detection and treatment, resulting in benefit for these patients.- - - - - - - - - - ranking = 2keywords = physical examination, physical (Clic here for more details about this article) |
8/22. Case of complete recovery of pancytopenia after treatment of hypopituitarism.We describe a 55-year-old woman who presented with pancytopenia with a normocytic and normochromic anemia which was progressive despite conventional treatments such as folic acid, vitamin B6, and oxymetholone. Her physical findings and history of a previous massive postpartum hemorrhage suggested Sheehan's syndrome, and the pituitary hormonal studies revealed panhypopituitarism. After 4 months of thyroxine and glucocorticoid replacement therapy, her pancytopenia and bone marrow hypoplasia recovered completely. pancytopenia is a rare manifestation of a hormonal abnormality, but hematologists need to be aware of panhypopituitarism as a differential diagnosis when women showing features of hypopituitarism present with pancytopenia because it can be reversed with adequate hormone replacement.- - - - - - - - - - ranking = 0.19074172472217keywords = physical (Clic here for more details about this article) |
9/22. Chromosomal translocation t(10;11)(q26;q13) in a woman with combined pituitary hormone deficiency.We describe the case of a girl with combined pituitary hormone deficiency (CPHD) carrying a balanced chromosomal translocation t(10;11)(q26;q13) with paternal transmission. Her father, with no apparent physical abnormalities, had the karyotype: 46, XY, t(10;11)(q26;q13). CPHD denotes impaired production of growth hormone (GH) and one or more of the other five anterior pituitary-derived hormones. Pit-1 gene and Prop-1 gene mutations and deletions have been reported being responsible for CPHD. Although our patient had a t(10;11) (q26q13) paternal chromosomal translocation, the phenotype was similar to that found in humans with different Pit-1 or Prop-1 gene alterations. Interestingly, the patient's father had the same translocation without phenotypic effects. In conclusion, we describe panhypopituitarism in a woman with a paternally transmitted translation, which appears to be phenotypically expressed only in females.- - - - - - - - - - ranking = 0.19074172472217keywords = physical (Clic here for more details about this article) |
10/22. Bacterial pituitary abscess: an unusual cause of panhypopituitarism.OBJECTIVE: To describe a case of primary bacterial pituitary abscess manifesting as hypopituitarism. methods: We present the case history, hormonal and bacteriologic data, and findings on imaging studies in a 34-year-old man. RESULTS: The patient had an 8-month history of intermittent fever, headache, nausea, vomiting, and weight loss. Because a computed tomographic scan of the head showed a cystic sellar mass with ring enhancement, he was referred to our medical center. On physical examination, he showed signs of meningeal irritation and had mild hypotension. Hormonal evaluation revealed evidence of hypocortisolism, hypothyroidism, and hypogonadism. Three weeks after treatment with antibiotics and hormonal replacement, he underwent transsphenoidal surgical exploration and evacuation of purulent material from the sella. On culture, this specimen grew coagulase-negative staphylococci and propionibacterium granulosum. Nine months later, dynamic testing showed persistent central hypocortisolism, hypothyroidism, and hypogonadism. CONCLUSION: Bacterial pituitary abscess is rare but manifests similar to other pituitary masses with headaches, visual field defects, and hormonal disturbances. For the correct preoperative diagnosis of this condition, the physician must have a high index of suspicion, and the characteristic ring enhancement must be present on imaging studies.- - - - - - - - - - ranking = 1keywords = physical examination, physical (Clic here for more details about this article) |
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