Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0028754 (obesity)
124,988 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Particular aspects of plasma ACTH radioimmunoassay are examinated. The results obtained with this method in adrenocortical diseases (Addison's disease, Cushing's syndrome, congenital adrenal hyperplasia) are reported and clinical value in etiological diagnosis of Cushing's syndrome is outlined. Moreover the results obtained in other syndromes of endocrinologic interest (massive obesity, Turner's and Klinefelter's syndromes, Laurence-Moon-Biedl syndrome, true precocious puberty, primary hypothyroidism, hypopituitary dwarphism) are reported and discussed.
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PMID:[Technical notes and clinical use of radioimmunologic determination of plasma ACTH]. 17 22

Clinical value of plasma TSH radioimmunoassay in various thyroid diseases (primary hypothyroidism, hyperthyroidism and simple goiter) is discussed. In particular, the results obtained of plasma TSH after TRH administration either in thyroid disease either in various disorders of endocrinologic interest (massive obesity, Laurence-Moon Biedl's syndrome, true precocious puberty, congenital adrenal hyperplasia, Klinfelter's and Turner's syndromes) are discussed.
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PMID:[Clinical use in the radioimmunologic determination of plasmatic TSH]. 122 42

To date, in publications on hamartomas, precocious puberty and laughing seizures have been discussed, but behavioural and cognitive abnormalities have been neglected. Therefore, we report a 14-year-old girl with a proven hamartoma, in which abnormalities of behaviour and cognition played an important role within the somatopsychic complex. In our patient, urinary incontinence during the seizures and psychiatric symptoms, such as eating disorder with obesity, school phobia, antisocial behaviour, withdrawal and cognitive problems (e.g. general slowness, deficiency of cognitive flexibility) came to the fore. The girl had not attended school regularly for almost 2 years, had stayed at home and was overtaxed psychosocially. The seizures and the urinary incontinence improved with drug treatment, but psychiatric difficulties increased and remained untreated until the girl came to a child psychiatric inpatient clinic where drug treatment and behavioural therapy were combined. During well-coordinated neurological and psychiatric treatment the laughing seizures (spontaneous, event-related, psychogenic) decreased and a considerable improvement in psychiatric and psychosocial problems was attained. Consequently, we recommend a close and timely integration of the psychiatric aspects in the treatment of children with hamartomas.
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PMID:Psychiatric disturbances in children with hamartomas: a neglected somatopsychic issue. A case report. 149 56

Real-time ultrasonography of the pelvic organs was performed on 151 girls with various complete and incomplete forms of precocious puberty, 20 girls with congenital adrenal hyperplasia, 20 with hirsutism, 18 with obesity, and 133 age-matched normal girls. Uterine and ovarian volumes were calculated and the ovarian morphologic picture was classified as homogeneous, nonhomogeneous (less than three small cystic areas), microcystic (four or more small cystic areas less than 9 mm in diameter), follicular (at least one cystic area greater than 9 mm), and macrocystic (large cystic area greater than 20 mm). Ultrasound imaging allowed an easy distinction between true precocious puberty and premature thelarche or idiopathic premature adrenarche. It was also helpful in the diagnosis of transient sexual precocity, although in these cases the differential diagnosis of precocious puberty can be difficult. In postmenarcheal patients with congenital adrenal hyperplasia, ultrasound study showed a low uterine volume and, frequently, a macrocyst in the ovary. In hirsute girls and in a few obese patients, ovaries had an increased volume and a microcystic structure, similar to those in polycystic ovary syndrome. Pelvic ultrasonography can be useful not only in diagnosing disorders in sexual development but also for greater understanding of the pathogenesis of these and other disorders.
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PMID:Pelvic ultrasonography in girls with precocious puberty, congenital adrenal hyperplasia, obesity, or hirsutism. 328 55

Disendocrine manifestations during aqueductal stenosis are more and more frequently reported in literature. In the present study, 20 cases of benign aqueductal stenosis associated with disendocrine features as amenorrhea, obesity, polydipsia and polyuria, dwarfism, acromegalic features, hypogonadism, precocious puberty, gigantism are stressed. Authors discuss clinical findings and pathogenetic hypothesis on the base of endocrine, neurological and peculiar radiological features with the support of a wide literature review.
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PMID:Disendocrine manifestations during non tumoral aqueductal stenosis. 349 May 53

We report the first case of identical female twins who satisfy the proposed diagnostic criteria for Cohen syndrome. The sisters presented with retinal degeneration, obesity and mental retardation, and had the characteristic facial appearance. The manifestations of previously reported cases of Cohen syndrome are reviewed. Unusual changes in our patients include tall stature, macrocephaly, and transient cardiomyopathy during the first year of life. These anomalies have been reported previously in other patients with Cohen syndrome, and suggest that the disorder is phenotypically heterogeneous. Precocious puberty was present in both girls; the latter findings have not been reported previously in the Cohen syndrome. Detailed metabolic and cytogenetic analysis demonstrated no abnormalities.
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PMID:Identical twins with Cohen syndrome. 757 57

Exaggerated adrenal response (ExAR), i.e. hypersecretion of both 17-hydroxypregnenolone (170HPreg) and 17-hydroxyprogesterone(17OHP) in response to adrenocorticotropic hormone (ACTH) stimulation, is frequently found in women with polycystic ovary (PCO) syndrome who had precocious adrenarche. In an earlier study we found an abnormal adrenal response in girls with idiopathic true central precocious puberty (CPP) at early stages of puberty. On follow-up it was noted that a significant number of girls with CPP develop PCO-like syndrome at a relatively young age. The aim of the present study was to determine if there is an association between ExAR and early PCO in girls with a history of CPP. Included were 49 girls with a history of CPP, 34 of whom were treated with gonadotropin-releasing hormone (GnRH) analog. All 49 were evaluated at full maturity, at ages 12.5-14 years, 0.5-4 years after menarche or resumption of menses. Of the 49 girls, 20 had at least 3/4 clinical signs of PCO (irregular menses, hirsutism, acne and obesity) and were defined as PCO-like+, whereas 29 did not fulfil the criteria and were considered PCO-like-. Girls with a definite enzyme deficiency were excluded from the study. All participants underwent a combined iv ACTH-GnRH test at early follicular phase. The PCO-like+ girls all revealed ExAR, i.e. an elevated stimulated 17OHPreg of 63.4 +/- 9.6 nmol/l (normal 28.6 +/- 9.2 nmol/l) and a normal stimulated 17OHPreg/17OHP ratio of 7.1 +/- 1.8 (normal 6.2 +/- 2.7), whereas all the PCO-like- had a normal adrenal response (30.0 +/- 8.7 and 5.3 +/- 2.0 nmol/l, respectively).(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Early polycystic ovary-like syndrome in girls with central precocious puberty and exaggerated adrenal response. 758 60

Empty sella syndrome (ESS) is a multicausal entity. The incidence of primary empty sella syndrome (PESS) in children with neuroendocrine dysfunction is not known. In the pediatric age group, frequency seems to have been underestimated. A total of 117 cases of neuroendocrine disorders, including complete growth hormone deficiency, primary hypothyroidism with pituitary resistance to thyroid hormone, obesity, central precocious puberty, hypothalamic hypogonadism and central diabetes insipidus, have been studied with computed tomography and/or magnetic resonance imaging of sellar region for etiologic evaluation. Twenty-one patients were found to have PESS. We noted a high incidence of PESS in children with neuroendocrine dysfunction (17.9%). Children with neuroendocrine dysfunction should be investigated with respect to PESS, and children with PESS recognized coincidentally should be studied with the particular consideration of subclinical neuroendocrine dysfunction.
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PMID:Association of empty sella and neuroendocrine disorders in childhood. 764 85

We report the case of a 9-year-old girl with multiple problems due to hypothalamic dysfunction of obscure origin: apnoeic spells, behavioural problems, developmental delay, hypodipsia with bouts of hypernatraemia, episodes of spontaneous hypothermia, obesity, petit-mal seizures, non-progressive precocious puberty, absence of respiratory response to CO2 and probably insensitivity of hyposensitivity to pain. She also had hyperprolactinaemia and decreased human growth hormone secretion. Hypothyroidism of central origin and hyposecretion of cortisol were also present. Multiple brain CT-scans failed to reveal any tumour or other anatomical abnormality. Her clinical course was improved initially by treatment with clomipramine, but she died suddenly, and the autopsy failed to disclose any anatomical lesion. We compare this case with three similar previously reported cases.
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PMID:Hypothalamic dysfunction in a child: a distinct syndrome? Report of a case and review of the literature. 768 46

Luteinizing hormone releasing hormone (LHRH) is a decapeptide that regulates reproductive function and behaviors in mammalian species. Because of the importance of proper reproductive function and efficiency in agricultural species, we have investigated the prepubertal ontogeny of LHRH-like immunoreactivity (IR) in the male Meishan pig. The Meishan is a Chinese breed known for reproductive traits including increased litter size and precocious puberty, but slow growth and obesity. Brains of animals from gestational day (g) 30, 50, 70, 90 and 110 and postnatal day (pn) 1, 10, 20 and 50 (duration of pregnancy averaged 114 days) were processed using a standard immunohistochemical technique utilizing a commercially available rabbit anti-LHRH antibody. LHRH-IR in cell bodies and fibers was detected at g30 entering the brain via the terminal nerve and in the septal region of the basal telencephalon. The number of immunoreactive cells increased at g50 and cells were localized primarily to the septum, organum vasculosum of the lamina terminalis, preoptic area and lateral hypothalamus, whereas immunoreactive fibers were present throughout the septum and hypothalamus and had reached the median eminence. The density and distribution of immunoreactive fibers increased by g70 and g90, but did not change dramatically from g90 to pn50. These results indicate that LHRH may be present in the Meishan brain earlier during development and fibers containing LHRH-IR appear to reach the median eminence earlier than previously reported for the domestic pig. These results suggest a breed difference in the ontogeny of reproductive control systems in the pig. Future studies utilizing direct comparisons between domestic and Chinese breeds will be required to investigate the apparent differences in the ontogeny of LHRH-containing systems in the pig.
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PMID:The prepubertal ontogeny of luteinizing hormone releasing hormone-like immunoreactivity in the diencephalon and telencephalon of the male Meishan pig brain. 887 90


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