Langerhans cell histiocytosis limited to the pituitary-hypothalamic axis--two case reports. (9/138)

Langerhans cell histiocytosis rarely presents as a solitary lesion in the pituitary-hypothalamic region, and is indistinguishable from germinoma, which occurs much more frequently, especially in Japanese. A 14-year-old girl and a 9-year-old girl presented with polydipsia and polyuria as the initial symptoms. Magnetic resonance (MR) imaging demonstrated a round mass at the pituitary stalk appearing as isointense on T1-weighted imaging and hyperintense on T2-weighted imaging. Endocrinological examination revealed mild hypopituitarism with central diabetes insipidus. Both patients underwent open craniotomy. Histological examination revealed granulomatous tissue with eosinophil infiltration and frequent Langerhans histiocyte clustering, compatible with the diagnosis of Langerhans cell histiocytosis. Low-dose local irradiation of 20 Gy was administered. First patient was followed up for 8 years, and her hypopituitarism gradually improved to a minimal level with only amenorrhea as the residual symptom. Recent MR imaging showed no residual mass at the region. Second patient was followed up for 15 months, and her diabetes insipidus is stable. MR imaging performed 5 months after the treatment showed marked reduction of the mass. These cases reemphasize the importance of histological diagnosis for lesions with similar neuroimaging appearances. Biopsy and low-dose irradiation are an effective treatment for this rare and essentially benign lesion, as opposed to attempting total removal of the mass.  (+info)

Lower baseline plasma cortisol and prolactin together with increased body temperature and higher mCPP-induced cortisol responses in men with pedophilia. (10/138)

There is some evidence that hormonal and serotonergic alterations may play a role in the pathophysiology of paraphilias. The aims of the present study were to examine: 1) baseline plasma cortisol, plasma prolactin, and body temperature; and 2) cortisol, prolactin, body temperature, as well as behavioral responses to meta-chlorophenylpiperazine (mCPP) and placebo in pedophiles and normal men. Pedophiles showed significantly lower baseline plasma cortisol and prolactin concentrations and a higher body temperature than normal volunteers. The mCPP-induced cortisol responses were significantly greater in pedophiles than in normal volunteers. In normal volunteers, mCPP-induced a hyperthermic response, whereas in pedophiles no such response was observed. mCPP induced different behavioral responses in pedophiles than in normal men. In pedophiles, but not in normal men, mCPP increased the sensations "feeling dizzy, " "restless," and "strange" and decreased the sensation "feeling hungry". The results suggest that there are several serotonergic disturbances in pedophiles. It is hypothesized that the results are compatible with a decreased activity of the serotonergic presynaptic neuron and a 5-HT2 postsynaptic receptor hyperresponsivity.  (+info)

Hypothalamic encephalitis with bradycardia. (11/138)

A 74-year-old man developed fever, somnolence, hyponatremia, and life-threatening sinus bradycardia for three weeks. He showed a slight elevation of lymphocyte count and protein level in the cerebrospinal fluid. A brain CT scan revealed a diffuse low density area around the hypothalamus which was identified as a high intensity signal by flair MR imaging. Marked sinus bradycardia developed with no abnormality in the echocardiograph or cardiac enzymes. Over the next 6 weeks he became alert and normal sinus rhythm resumed. The results of endocrine tests were compatible with hypothalamic insufficiency with partial hypopituitarism and the syndrome of inappropriate secretion of ADH.  (+info)

Aetiology, previous menstrual function and patterns of neuro-endocrine disturbance as prognostic indicators in hypothalamic amenorrhoea. (12/138)

BACKGROUND: Hypothalamic amenorrhoea (HA) is a syndrome associated with infertility and osteopenia in reproductive-age women. METHODS: To understand better the natural history of this disorder, 28 women participated in a retrospective, questionnaire-based analysis to elucidate factors associated with spontaneous recovery. RESULTS: 54% of subjects developed HA related to an eating disorder, 21% related to stress +/- weight loss, and 25% without obvious contributing factors (idiopathic). HA associated with a clear precipitant had a better prognosis than idiopathic HA (71 versus 29% recovery; P < 0.05). Reversal of the inciting factor appeared necessary but not sufficient for recovery (83% recovery if factor reversed). Normal menarche occurred in 61% of subjects, oligomenorrhoea in 32%, and primary amenorrhoea in 7%. Oligomenorrhoea and normal menarche showed a trend toward better prognosis than primary amenorrhoea (NS). Compared with controls, 46% of HA patients had decreased frequency of LH pulses, 7% decreased amplitude, 18% decreases in both frequency and amplitude, 18% absent pulses, and 11% normal-appearing pulses. Pulse pattern at baseline did not predict recovery. CONCLUSIONS: The aetiology of HA at the time of presentation predicts subsequent recovery of menstrual function. In stress, weight loss, or eating disorder-related HA, rates of recovery exceeded 80% when precipitating factors were reversed. Idiopathic HA may represent a different disorder as recovery rates were <30%.  (+info)

Pallister-Hall syndrome phenotype in mice mutant for Gli3. (13/138)

Mutations in the GLI3 gene have been identified in several human malformation syndromes. One of these autosomal dominant developmental disorders is Pallister-Hall syndrome (PHS; MIM146510), which is associated with central polydactyly and other malformations. Interestingly, the mutations in the GLI3 transcription factor gene identified in patients with PHS are restricted to the region 3' of the zinc finger-encoding domain, leaving this DNA-binding domain intact. We have investigated the consequences of this mutation on the development of multiple organ systems by introducing a targeted mutation in mice. We found that mice homozygous for the mutation showed a central polydactyly, thus modeling one of the major abnormalities of the human syndrome. Moreover, Gli3-mutant mice displayed a wide range of developmental abnormalities encompassing almost all of the common PHS features, including imperforate anus, gastrointestinal, epiglottis and larynx defects, abnormal kidney development, and absence of adrenal glands. Thus, our Gli3-mutant mice provide an excellent model for studies of both the pathogenesis of PHS and Gli3 functions in the development of the affected organ systems.  (+info)

Leptin in functional hypothalamic amenorrhoea. (14/138)

BACKGROUND: Leptin, body weight, body mass index (BMI) and other hormones in women with functional hypothalamic amenorrhoea (FHA) were investigated and the hypothesis proposed that energy imbalance is the predominant mechanism for leptin reduction in patients with FHA. METHODS: Eighty-eight women with FHA and 65 age- and weight-matched controls were divided into homogeneous groups on the basis of their BMI: women with different degrees of underweight (BMI 15-16, 17-18 kg/m(2)) and of normal weight (BMI 19-21, 22-24 kg/m(2)). Hormone and carrier protein assays were measured in all groups. RESULTS: In each BMI group of patients with FHA, gononadotrophins, prolactin, insulin, free tri-iodothyronine and leptin levels were significantly lower than those of the respective controls, whereas cortisol and insulin-like growth factor (IGF)-binding protein-1 (IGFBP-1) were higher. We found significant linear positive correlations between leptin and body weight, BMI, LH, peptide-C, insulin, IGF-1 values and negative correlations with cortisol and IGFBP-1. CONCLUSIONS: Leptin values in women with FHA are significantly lower than controls, even in the group of patients having normal body weight and BMI. Leptin profile is different between patients with FHA and controls: it is suggested that energy balance can interfere with the ratio of body weight/leptin and BMI/leptin in FHA.  (+info)

Hypoestrogenemia of hypothalamic origin and coronary artery disease in premenopausal women: a report from the NHLBI-sponsored WISE study. (15/138)

OBJECTIVES: We sought to evaluate hypoestrogenemia of hypothalamic origin and its association with angiographic coronary artery disease (CAD) in premenopausal women. BACKGROUND: Coronary artery disease in premenopausal women appears to have a particularly poor prognosis. Primate animal data suggest that premenopausal CAD is strongly determined by psychosocial stress-induced central disruption of ovulatory cycling and resulting hypoestrogenemia. METHODS: We assessed reproductive hormone blood levels and angiographic CAD using core laboratories in 95 premenopausal women with coronary risk factors who were enrolled in the National Heart, Lung, and Blood Institute-sponsored Women's Ischemia Syndrome Evaluation and were undergoing coronary angiography for evaluation for suspected ischemia. RESULTS: Premenopausal women with angiographic CAD (n = 13) had significantly lower estradiol, bioavailable estradiol, and follicle-stimulating hormone (FSH) (all p < 0.05) than women without angiographic CAD (n = 82), even after controlling for age. Hypoestrogenemia of hypothalamic origin, defined as estradiol <184 pmol/l (50 pg/ml), FSH <10 IU/l, and luteinizing hormone <10 IU/l, was significantly more prevalent among the women with CAD than those without CAD (9/13 [69%] vs. 24/82 [29%], respectively, p = 0.01). Hypoestrogenemia of hypothalamic origin was the most powerful predictor of angiographic CAD in a multivariate model (odds ratio [OR] 7.4 [confidence interval (CI) 1.7 to 33.3], p = 0.008). Anxiolytic/sedative/hypnotic and antidepressant medication use were independent predictors of hypoestrogenemia of hypothalamic origin in a multivariate model (OR 4.6 [CI 1.3 to 15.7], p = 0.02, OR 0.10 [CI 0.01 to 0.92], p = 0.04, respectively). CONCLUSIONS: Among premenopausal women undergoing coronary angiography for suspected myocardial ischemia, disruption of ovulatory cycling characterized by hypoestrogenemia of hypothalamic origin appears to be associated with angiographic CAD.  (+info)

A case of lymphocytic infundibuloneurohypophysitis associated with systemic lupus erythematosus. (16/138)

A 27-year-old man was admitted to our hospital with facial erythema and general malaise. He had previously suffered from orbital myositis, central diabetes insipidus (DI), peripheral neuritis, and hypogonadotropic hypogonadism. Physical and immunological examinations revealed that he was suffering from systemic lupus erythematosus (SLE). Magnetic resonance imaging of the hypothalamic-pituitary region demonstrated a significant enlargement of the pituitary stalk and posterior pituitary. Endocrinological examinations showed that he had not only DI and hypogonadotropic hypogonadism but also hypoadrenalism and hypothyroidism, which were ascribed to the pituitary stalk lesion. Lymphocytic infundibuloneurohypophysitis associated with SLE was diagnosed. Administration of 30 mg/day of prednisolone for one month resulted in a marked reduction of the pituitary stalk thickening and posterior pituitary. It is recommended that a pharmacological dose of glucocorticoid be used in the treatment of lymphocytic hypophysitis patients who show significant thickening of the pituitary stalk and/or a large pituitary mass.  (+info)