Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We recently described an infantile onset spinocerebellar ataxia (IOSCA) in 19 Finnish patients. The classification of hereditary ataxias of unknown etiology is difficult because of the heterogeneity of these diseases. The clinical course of IOSCA is homogeneous. Ataxia, muscle hypotonia, athetosis, and loss of deep tendon reflexes in the legs appeared around the age of 1 year. Ophthalmoplegia and deafness were found by school-age, and sensory axonal neuropathy and optic atrophy by adolescence. An acute crisis with epilepsy was a late manifestation. The female patients had hypogonadism. In order to define the type of hypogonadism and to exclude other endocrine defects we measured serum concentrations of SHBG, DHEAS, prolactine, testosterone/estradiol, FSH and LH in postpubertal patients. ACTH, hCG and GnRH tests were performed to both pre- and postpubertal patients. Growth was analysed, and the brain and pituitary region were examined with magnetic resonance imaging (MRI). The estradiol values were low and FSH and LH values were high in the female patients, which indicates that the hypogonadism was of the hypergonadotropic type. The growth of the female patients was steady without a significant pubertal growth acceleration. The growth and pubertal development of the male patients were normal. The adrenal cortical and thyroidea functions were normal in all patients.
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PMID:Primary hypogonadism in females with infantile onset spinocerebellar ataxia. 855 18

Prader-Willi syndrome (PWS) is a genetic disorder characterized by dysmorphic features, obesity, hypogonadism, hypotonia and mental retardation. Obesity has been linked to insulin resistance and the latter has also been associated with premature adrenarche. Since up to date a controlled study to investigate adrenarche and its hormonal regulation was lacking in PWS, our aim was to assess whether prepubertal PWS patients develop premature adrenarche and its relationship with markers of insulin sensitivity. Fourteen prepubertal children with PWS (6 M, 8 F) and 10 non-syndromal simple obese matched controls (5 M, 5 F) participated (mean age: 7.62 +/- 1.84 years). A fasting blood sample was obtained for adrenal and ovarian androgens, sex hormone binding globulin, insulin-like growth factor-I (IGF-I), insulin-like growth factor binding protein-1, leptin, adiponectin and a lipid profile. Thereafter an oral glucose tolerance test was performed. PWS patients were smaller at birth and a higher proportion displayed premature pubarche. No differences were found in testosterone, androstenedione, sex hormone binding globulin, free androgen index, homeostatic model assessment-IR, 2-hour insulin, leptin or adiponectin levels. 17-hydroxyprogesterone and DHEAS levels however, were significantly higher in PWS. IGF-I levels were significantly lower in PWS and correlated significantly with height SDS (p < 0.05). In conclusion, a higher proportion of premature adrenarche in our PW patients was observed, which was not explained by differences in insulin sensitivity or plasma levels of adipokines and IGF-I.
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PMID:Adrenarche in Prader-Willi syndrome appears not related to insulin sensitivity and serum adiponectin. 1708 44