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PubMed1975

Assessment of ophthalmologic, endocrinologic and genetic findings in the Bardet-Biedl syndrome.

There is a great degree of heterogeneity of ophthalmologic and endocrinologic manifestations among patients with the Bardet-Biedl syndrome. The similarity of the atypical forms of retinitis pigmentosa and cone-rod degeneration indicates that definitive functional and electrophysical retinal work-ups should be performed on young patients with this syndrome. Since many cases of delayed puberty occur, the diagnosis of hypogonadism should be deferred until age 15. Segregation analysis on a large study of Bardet-Biedl syndrome in Switzerland differs from that expected with simple autosomal recessive inheritance. Excess affected males and deficient consanguinity are also documented. The occurrence of other family members with incomplete forms of the syndrome is noted in many reports in the literature. The authors propose that consideration be given to the hypothesis that the Bardet-Biedl syndrome may be transmitted by polygenic inheritance, since this would be compatible with features of the syndrome mentioned above.

Adolescent↗
PubMed1994

[Endocrinological changes in pre- and postmenopause].

The endocrinology of the perimenopause--the time between pre- and postmenopause--is characterized by changes in the metabolism of the steroid hormones caused by increasing insufficiency of the ovaries. Until the age of 48 the concentrations of the estrogens are relatively constant with a median level of 120 pg/ml serum for estradiol and of 75 pg/ml for estrone. Between the age of 49 and 54 the levels decrease to concentrations of 35 pg/ml for estrone and 10 pg/ml for estradiol. In the corresponding time, there is a tenfold rise of the level of FSH. The level remains constant until high age. The decrease of the estrogens causes the menopause in an age of 51 to 52. In the postmenopause the ovaries don't play a role for the concentrations of the estrogens. The concentrations are determined by the conversion of the androgens secreted by the adrenal cortex. The serum concentrations of androstenedione are five times higher than those of testosterone. The function of the adrenal cortex remains until high age; there is no 'adrenopause' comparable to the 'menopause'. The suppression of the adrenal cortex by treatment with corticoids (e.g. for asthma) causes a dramatic decrease of the androgens and consecutively for the estrogens. The lack of estrogens play an important role in the induction of osteoporosis and other disturbances of the late postmenopause, e.g. coronary heart disease. Obese women show in the pre- and the perimenopause more often dysfunctional bleedings caused by anovulation or corpus luteum insufficiency.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMedDate not supplied

Changes in the endocrinological milieu after clomiphene citrate treatment for oligozoospermia: the clinical significance of the estradiol/testosterone ratio as a prognostic value.

We have already reported that the rate of increase in the estradiol/testosterone ratio (E2/T ratio) following human chorionic gonadotropin (hCG) injection has prognostic value in the treatment of oligozoospermia. It was found that the rate of increase in the E2/T ratio was statistically greater in the therapeutically ineffective cases compared to the therapeutically effective cases. The present study was planned in order to elucidate the relationship between the changes in the endocrinological milieu, especially the change in the E2/T ratio, and the therapeutic efficacy when clomiphene citrate was administered. Thirty-eight oligozoospermic patients were administered 25 mg of clomiphene citrate daily for 3 months. Sixteen of the 38 (42.1%) cases showed improvement of more than 10 x 10(6)/ml in sperm concentration. The rate of increase in the E2/T ratio of the effective cases (0.90 +/- 0.43) during the administration of clomiphene citrate was statistically (P = 0.02) lower than that of the ineffective cases (1.44 +/- 0.80). The rate of increase in the E2/T ratio during clomiphene citrate treatment showed a statistically positive correlation (r = 0.542) with the rate of increase following hCG injection performed before clomiphene citrate treatment. The rate of increase in follicle-stimulating hormone (FSH) in the ineffective cases (2.16 +/- 1.01) was statistically higher than in the effective cases (1.50 +/- 0.43).(ABSTRACT TRUNCATED AT 250 WORDS)

Chorionic Gonadotropin↗
PubMed1994

[Endocrinological examination and its clinical significance in manic-depressive illness].

Neuro-endocrine test is one of the useful strategies in examining the pathophysiology of manic-depressive illness (MDI). Unfortunately, however, the pathophysiology of MDI has not yet been clarified and the specific biological markers of MDI have still not been found. In the present paper, a brief general survey as to main clinical points of endocrinological examination and its results towards the hypothalamic-pituitary-adrenal axis, the hypothalamic-pituitary-thyroid axis, the hypothalamic-pituitary-gonadal axis, growth hormone, melatonin, etc. are given and some mentions of biological markers in MDI are made.

Adrenocorticotropic Hormone↗
PubMed1975

Comparative primate reproductive endocrinology: advancements important in domestic breeding programs.

Recent advancements in primate reproductive endocrinology were reviewed with special emphasis given to hormonal patterns indicative of ovulation, technics for early pregnancy diagnosis, comparison of steroidal and gonadotropic hormonal patterns among various primates during advanced gestation, and identification of the individual contributions of the maternal, fetal, and placental compartments to the hormonal milieu of pregnancy. Each of these topics was examined according to its application to the management aspects of primate breeding.

Animals↗
PubMed1994

[Endocrinology 1992-1993].

In a brief review of advances made in endocrinology during the past two years, focused on steroid hormones, the author discusses findings on mineral corticoid and glucocorticoid receptors and their interaction with hormone responsive elements in nuclei of target cells. The antimicrobial action of some steroid hormones and general characteristics of the cell reaction to stress (proteins of heat shock) are also new findings. In the region of peptide hormones the author mentions findings pertaining to the mechanisms of development of adenohypophyseal adenomas, probably by the action of GHRH. It is assumed that some derivatives of prostaglandins will have an antiviral and anti-tumorous effect. An endogenous ligand for tetra-hydro-cannabinol receptors was isolated. Preventive administration of insulin protects relatives of patients with diabetes mellitus type I from the development of the disease.

Hormones↗
PubMed1994

[Three siblings of painful muscle cramps (generalized muscle cramp disease) with alopecia and endocrinological disorders].

Three siblings with generalized painful muscle cramps, generalized alopecia, and endocrinological abnormalities are presented. Their clinical features are very similar to those in sporadic cases reported as having generalized muscle cramp disease. Autosomal recessive inheritance was suggested in our patients. Abnormal laboratory tests include hypersecretion of insulin after glucose loading, elevated levels of luteinizing hormone (LH) and follicular stimulating hormone (FSH), and hypersecretion of LH in the LH-RH test. An elevation of IgG and IgG index in the cerebrospinal fluid (CSF) of two patients suggests IgG production in the CSF. Oral administration of 75 to 150 mg of dantrolene sodium decreased the frequency, intensity, and duration of cramps in all cases. Autoimmune mechanisms based upon hereditary abnormalities are suggested as a cause of their disease.

Adult↗
PubMed1993

[MRI findings and endocrinological dysfunction in hemorrhagic pituitary adenoma].

Magnetic resonance image (MRI) findings, intraoperative macroscopic findings and endocrinological functions were reported in 13 cases of hemorrhagic pituitary adenoma (HPA) according to clinical severity. The cases were divided into 3 groups: (1) classical pituitary apoplexy (PA) (n = 2), (2) subacute PA (n = 4), (3) asymptomatic HPA (n = 7). Based on MRI intensity and intraoperative findings, there were 7 cases with hemorrhagic PA and 5 with necrotic cyst formation. MRI intensities predicted the cyst contents, either hemorrhagic or xanthochromic, more accurately than CT findings. In addition, two classical cases of the PA group disclosed niveau formation on MRI, but MRI intensity in the first case differed from that in the second case. Classical PA of the first case occurred during the pregnancy. MRI intensity in the case 7 months after the onset disclosed high intensity of the upper part and normointensity of the lower part. T1 weighted image and proton image showed homogeneous intensity. On the contrast, PA of the second case showed water-like intensity on the upper part and methemoglobin-like intensity on the lower part. These different MRI intensities suggest different etiologies of niveau formation. MRI findings in the first case may indicate the chronic stage of massive intratumoral hemorrhage but the mechanism may be the same in both cases. From MRI intensity and clinical course, the cause of niveau formation in the second case is similar to that found in the literature. That is, hemorrhage was thought to have occurred in the pre-existing cyst cavity.(ABSTRACT TRUNCATED AT 250 WORDS)

Adenoma↗
PubMed1993

[The endocrinologic profile of metabolites of the progestin dienogest].

Two identified metabolites of the orally active progestin dienogest, the compounds STS 749 (17 alpha-cyanomethyl-11 beta,17 beta-dihydroxy-estra-4,9-dien-3-one) and STS 825 (17 alpha-cyanomethyl-estra-1,3,5(10),9(11)-tetraene-3,17 beta-diol), furthermore 4 microbially formed metabolites and 10 chemically prepared analoga of dienogest were characterized by endocrinological tests. The compounds were investigated for progesterone-receptor binding, progestational and antiprogestational, estrogenic and antigonadotropic activities, furthermore for inhibition of fertility. In no case an increased progestational activity of metabolites or analoga was found, compared to the parent substance. Therefore, it should be excluded, that dienogest acts as a prodrug. Additionally, the dosages necessary to produce the progestational effects are quite similar using oral or subcutaneous application. Therefore, a first-pass effect can be neglected. Regarding the low endocrine side effects of dienogest, the antiprogestational activity may be caused, at least in part, by metabolites.

Androgen Antagonists↗
PubMed1995

[Quick Return Service in endocrinological tests].

It is important to measure certain hormones to make a diagnosis as quickly as possible. We inquired the needs of quick return services (QRS) in the field of endocrinology. First, we sent questionnaires to 86 endocrinologists in Japan (recovery 83%). About 20.2% of the endocrinologists wanted to receive QRS for the diagnosis of thyroid disorders. However, less than 10% of the specialists wanted to receive QRS on pituitary hormones, sex hormones and many other hormones. These responses were as expected. It is clear from our experience reported previously that the appropriate choice of a commercially available kit is essential if serious errors are to be avoided. Accurate and precise results are much more important than receiving QRS.

Clinical Laboratory Techniques↗
PubMed1995

Molecular biology in reproductive endocrinology.

Through the study of naturally occurring mutations in humans, the creation of mutations by site-directed mutagenesis, and the production of transgenic knockout mice, further understanding of molecular reproductive endocrinology had been achieved. Mutations in the aromatase gene in females have confirmed that its deficiency results in a previously unrecognized form of sexual ambiguity with a 46,XX karyotype, and delayed puberty with multicystic ovaries. It has long been known that estrogen is necessary for skeletal growth and epiphyseal closure in the female, but aromatase and estrogen receptor gene mutations in men have demonstrated for the first time, that estrogen is important for epiphyseal closure in the male. Mutations in the steroidogenic acute regulatory protein have been recently described that demonstrate the cause for lipoid congenital adrenal hyperplasia, a disorder characterized by the complete lack of steroid production. New gene mutations in gonadotropin beta-subunits, pituitary hormones, G-protein coupled receptors, G-proteins, steroid enzymes and their receptors have also been characterized recently. Site-directed mutagenesis experiments and transgenic knockout mice have been increasingly used to study the effects of normal endocrine function. Normal functions of steroid receptor genes (steroidogenic factor-1, estrogen receptor, progesterone receptor) the glycoprotein alpha-subunit, luteinizing hormone beta, and proto-oncogenes such as RET have been better characterized by creating knockout models. Molecular biology techniques permit these types of studies which may be difficult, if not impossible, to perform otherwise in physiologic settings.

Adrenal Cortex Hormones↗
PubMed1995

Place of transvaginal sonography in the evaluation of reproductive endocrinology.

A high frequency vaginal probe with improved resolution offers a remarkable sharp clear image of pelvic organs. This is possible because of its closed proximity with target organ and non-intervention by gut or omentum. Study of ovarian follicular dynamics (folliculometry), identification of proliferative, secretory and decidual changes of endometrium (endometrial dating) in different phases of menstrual cycle and imaging of mucus secretion in the cervical canal (cervical mucus study) in the pre-ovulatory phase is possible by transvaginal probe. It is non-invasive, acceptable to patients, and thus can be repeated any number of times. A close serial monitoring offers immense wealth of information about the anatomical as well as reproductive endocrinal status of the patient. Ovulation can be predicted in advance. The case of dysovulation can be identified in first cycle of study; corrective therapy can be started in another two or three cycles, aiming at achieving perfect folliculogenesis. Once well tuned synchronised cycle is restored, the pregnancy outcome is remarkable. Thus transvaginal sonography offers one of the best reproductive endocrinology evaluation in the hand of a modern gynaecological sonologist and infertility specialist.

Female↗
PubMed1996

[ob protein--product of expressing an obesity gene and some aspects of modern-day endocrinology].

A brief review of the studies on the obese (ob) gene is given. The ob gene is a mouse gene, the mutations of which are associated with altered metabolism and increased lipid deposits in adipose tissue. Recessive ob gene mutations in homozygous mice result in obesity and diabetes mellitus. Both mouse and human ob cDNAs were cloned and sequenced using positional cloning, exon trapping, and PCR. Of ten tested tissues, the ob gene was expressed only in white adipose tissue. The ob gene cDNA has a region of the nucleotide sequence with an opening reading frame and encodes the ob protein consisting of 167 amino acid residues. Mouse and human ob proteins showed a 85% homology. The 145-amino acid peptide termed as leptin and derived from ob protein after cleavage of signal peptide is secreted in the blood and stimulates fat consumption in energy metabolism. The biologically active ob peptide has been obtained by gene engineering methods. Administration of the ob protein to ob/ob mice reduced body weight and abolished symptoms of diabetes. The ob protein lowered body weight also in healthy animals. It was biologically effective both upon parenteral and intravenous administration and also when injected into lateral ventricle of the brain. With a polyclonal antiserum against the peptide the ob protein was shown to be present in human and mouse plasma and mouse adipose tissue. Based on the data obtained, it is postulated that the ob gene protein product leptin, is a hormone, which is secreted by adipocytes in the blood in varying amounts and regulates the mass of adipose tissue by stimulating lipid metabolism. Similarly to adipocytes, many other organs and tissues are presumably endocrine and may secrete peptide hormones in the blood. This considerably extends the scope of endocrinology and makes it necessary to review the existing concepts and views.

Amino Acid Sequence↗
PubMedDate not supplied

[Endocrinologic problems of the male adolescent].

The male adolescent may present several endocrinological problems, the most frequent of which is the retardation or absence of puberty due to constitutional delay of growth and development. This form does not require therapy and must be distinguished from other forms of hypogonadism (primitive or secondary) by endocrine tests (LHRH test, nightly pulses LH secretion, plasmatic basal level of testosterone and after HCG, cerebral NMR). Hypogonadism treatment consists of replacement therapy with testosterone or testes stimulation with HCG or LHRH. Another frequent disease is gynecomastia, usually due to physiological enlargement of mammary gland during pubertal development, sometimes it may be secondary to hypogonadism, tumors, liver function abnormalities. Severe or psychologically disturbing gynecomastia can be corrected by reductive mammoplasty. Very often, adolescents may present diseases related to incorrect food habits. Obesity is common and anorexia is becoming an important problem also in males.

Adolescent↗
PubMed1997

[Turner's syndrome: growth, endocrinological study and other aspects].

OBJECTIVE: This was work was designed to analyze, in a group of patients with Turner's syndrome treated at our hospital, the following issues: 1. To follow the evolution of several common values of body growth from birth to adult life, as well as the influence of growth hormone therapy. 2. To determine the changes in gonadotrophins and alterations of the thyroid gland. 3. To define the relationship between the karyotype and the development of menarche. MATERIALS AND METHODS: Neonatal growth values were obtained from 32 patients. Body size before and after the treatment with growth hormone was determined in 20 cases. We determined the values of TSH/T41 and FSH/LH in 35 and 34 cases, respectively. In 34 patients older than 15 years and not treated with estrogens, we evaluated the relationship between the karyotype and the presence of menarche/amenorrhea. RESULTS: Mean values of body length, weight and cranial perimeter were 477 mm, 2,877 g and 335 mm, respectively. These values were below those of the normal population, especially for those patients with a 45.X karyotype. The mean height for adult patients was 141.6 cm (range 133.3- 152 cm). After 2 years of treatment with growth hormone the growth velocity changed from -0.25 to +3.55 SD. We did not find pathological values for TSH or T4 (3.3 mU/l and 1.85 ng%, respectively). The LH and FSH values were higher in 64% and 88% of the patients, respectively. These differences were higher in patients older than 13 years, which showed values of 20 and 60 U/l. Twenty-three percent of the patients had the menarche and none were 45.X. CONCLUSION: The early detection of Turner's syndrome permits the physician to follow these patients, improving their growth and their endocrinological control.

Adolescent↗
PubMed1997

[Endocrinology 1995-1996].

In a brief review of advances in endocrinology in the last two years the author discusses above all the vain expectations of a drug against obesity-the adipose tissue hormone leptin. Its elevated blood level in human obesity indicates that its secretion depends on the mass of adipose tissue and it is not certain whether leptin reduces the food intake in humans. Perhaps resistance to leptin is involved. New receptor diseases were revealed: mutation of LH receptors leads in both sexes to hypogonadism. Mutation of the calcium receptor in parathyroid cells leads to familial hypocalciuric hypercalcaemia or autosomal dominant hypocalcaemia. The complex regulation of the tonus of the vascular wall by endothelins is still the object of interest. Aquaporin is a renal protein which mediates the action of vasopressin. In the sphere of stress evidence is emerging on the participation of CRH in brain activity and the possibility to influence autoimmune inflammations and perhaps even AIDS by interference with the CRH-proopiomelanocortin-ACTH-cortisol system.

Endocrine System Diseases↗
PubMed1997

Animal studies on the endocrinological profile of dienogest, a novel synthetic steroid.

Dienogest is an orally active synthetic steroid that is used for contraception and is currently being studied for the possible treatment of endometriosis. Earlier we demonstrated that dienogest had therapeutic effects on experimental endometriosis in rats and that its mechanisms of action were different from those of drugs currently on the market for the treatment of endometriosis. We also reported preclinically that dienogest showed a potential anticancer action against hormone-dependent cancers that was different from that of progestins. Accordingly, we obtained preclinical background data for the above-described clinical applications and extension of the clinical use of the drug in the near future by investigating the endocrinological profile of dienogest in rabbits and rats. Dienogest was characterized by having a moderate binding affinity for progesterone receptors and by progestational activities: it stimulated endometrial proliferation (> or = 0.01 mg/kg) that was only partially inhibited by RU-486, and induced carbonic anhydrase activity in endometrium (> or = 0.01 mg/kg). Also, it was slightly uterotrophic (> or = 1 mg/kg) with very low binding affinity for oestrogen receptors but without biological androgenic and anabolic activities (100 mg/kg), with neither glucocorticoid activity nor mineralocorticoid activity (100 mg/kg), and with very slight binding affinity for human sex hormone-binding globulin. These findings suggest that dienogest is not a pure progestin and appears to induce fewer side effects than drugs currently on the market for the treatment of endometriosis.

Animals↗