Gene/Protein Disease Symptom Drug Enzyme Compound
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21,692 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Thirty five patients with hypopituitarism have been studied. Nine had a mild hyponatremia (126-137 mEq/l) and five a profound hyponatremia (105-124 mEq/l). None of them had hemodilution (plasma protein, potassium were normal). Hyponatremia was present even in the absence of deficit in GH and/or TSH, and/or FSH-LH. All the pateints had a complete ACTH deficiency. There was a negative correlation between age and natremia (r = -0,39; p0.02). 2/5 patients with severe hyponatremia had mental confusion. These two patients had a complete TSH deficiency. Natremia increased with cortisone therapy in all cases but reached the normal range only in one case. Mental confusion disappeared and natremia became normal in all patients with therapy with cortisone and thyroid hormones.
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PMID:[Hyponatremia, a frequent, and at times a major and indicative sign in anterior pituitary insufficiency]. 20 18

We analyzed data from 20 patients with late-onset 21-hydroxylase deficiency (LOHD). Three clinical phenotypes could be distinguished among the 18 women. Seven (39%) presented with clinical features suggesting polycystic ovarian disease (PCOD). However, despite androgen levels similar to those of patients with typical PCOD, high serum LH to FSH ratios were not consistently found. Seven other women (39%) presented with isolated hirsutism, suggesting idiopathic hirsutism. The remaining 4 women (22%) had no manifestations of androgen excess and were considered to have the cryptic form of LOHD. Serum 17-hydroxyprogesterone (17-OHP) and androgen levels were similar in the 3 phenotypes, suggesting that the clinical expression of LOHD in women is modulated by individual factors, such as androgen sensitivity. The 2 men were detected by family study and were clinically normal. Since clinical diagnosis of LOHD is impossible, we concentrated on hormonal data with the aim of providing guidelines for the biological diagnosis of LOHD. Assay of basal serum 17-OHD at 0800 h in both sexes and in the early follicular phase in women was sufficient to establish the diagnosis of LOHD in most patients. If doubtful results are obtained, i.e. serum 17-OHP levels between 2 and 5 ng/ml, an ACTH test must be performed. Post-ACTH serum 17-OHP levels exceeding 10 ng/ml confirm the diagnosis of LOHD. Such results should avoid confusion with heterozygotes for 21-hydroxylase deficiency, whose frequency is high within the general population and may be even higher in patients with idiopathic hirsutism or PCOD.
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PMID:Clinical and biological phenotypes in late-onset 21-hydroxylase deficiency. 301 19

Nine phenotypic female patients with XY karyotype were evaluated through a clinical, cytogenetic, hormonal, endoscopic and histologic diagnostic protocol. Seven patients complained of primary amenorrhea and two patients of abnormal puberal development. The final diagnosis was XY gonadal dysgenesis (n = 5) and testicular feminization syndrome (n = 4). Two patients were less than 155 cm tall, and the remainder were over 155. Minor somatic anomalies were found in two patients with XY gonadal dysgenesis. Patient with testicular feminization syndrome had FSH and LH within the normal range, and patients with XY gonadal dysgenesis had elevated FSH and LH levels. Gonadoblastomas were found in two patients with XY gonadal dysgenesis (one patient with XO/XX/XY mosaicism). Laparoscopy and gonadal biopsy might be useful in some patients to avoid confusion between XY gonadal dysgenesis and testicular feminization syndrome. Early diagnosis of XY gonadal dysgenesis is always desirable, and bilateral gonadectomy is indicated as soon as the diagnosis is made in patients with a Y chromosome and elevated FSH levels. Surgical removal of the gonads from patients with testicular feminization should be delayed until the completion of puberty because of the low risk of malignancy.
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PMID:Management of phenotypic female patients with an XY karyotype. 309 20

Inhibin is defined as a gonadal hormone of the male and female that causes selective suppression of the secretion of FSH by the pituitary gland. Because of its ability selectively to suppress the secretion of FSH, which in turn would lead to a reduction in germ cell production, inhibin often has been promoted as an agent to regulate fertility, particularly in men. This review summarizes the recent reports on purification of inhibin and sequence analysis of cDNA coding for inhibin mRNA and then analyzes, in men and women, the likelihood of inhibin being used as a regulator of fertility and as a diagnostic in cases of infertility. Inhibin has been a difficult molecule to isolate and identify, and there has been considerable confusion about its physiochemical characteristics. Inhibin will have to consistently and reversibly induce azoospermia to be considered any further as a potential fertility-regulating agent in ment. If it is shown to do ths, then the problems of long-term administration of a polypeptide contraceptive will have to be addressed, including frequency of administration, the type of delivery system, and the possibility of antibody production, especially after long-term therapy. 2 strategies are possible during women's menstrual cycles: 1) treatment with inhibin every 5 to 7 days to prevent establishment of the dominant follicle and thereby continually suppress ovulation, r 2) continuous treatment with inhibin, at least for the 1st 7 days of the menstrual cycle, to suppress FSH to an extent that will not suppress ovulation but will result in an inadequate luteal phase. Potential problems include short and irregular cycles, breakthrough bleeding, and amenorrhea. Measurement of inhibin is a potentially useful adjunct for the diagnosis of infertility in men with disorders of the seminiferous tubules and is a potentially useful index of folliculogeresis and the time of ovulation in women.
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PMID:The nature of inhibin and its use in the regulation of fertility and diagnosis of infertility. 353 1

Although the maldescended or dystopic testis is one of the most common congenital anomalies in man, proper treatment remains a subject of much discussion and confusion. Certainly, in light of the previously described findings, the future fertility of the patient with unilateral cryptorchidism, regardless of age of correction, should be a realistic concern. Hormonal treatment should be recognized as a good diagnostic test for defining the retractile testes and should not be considered therapy. The pediatrician or family practitioner should be encouraged to examine the scrotal contents thoroughly in the neonatal period and to document findings. Earlier surgical intervention may benefit these patients since a prolonged extrascrotal location may add further insult to an intrinsic abnormality in the dystopic gonad. The cryptorchid testis may be smaller and have decreased consistency with or without surgery and usually signals significant testicular pathology. Synthesis of androgens and serum concentrations of LH should not be affected; thus, secondary sex characteristics will appear normal. Basal levels of FSH are usually elevated but do not necessarily imply overwhelming testicular damage. Current evidence clearly shows a variable degree of primary intrinsic gonadal dysgenesis with a frequent impairment of fertility in the cryptorchid testis, regardless of the time of treatment. Early surgery may decrease the ultimate loss of testicular function superimposed on the congenital dystrophy, thus diminishing the ultimate loss of effective spermatogenesis.
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PMID:Cryptorchidism and infertility. 612 19

The incidence of a fracture of the sella turcica is reported to be rare and the authors reported a case of a sellar fracture associated with several neurological and endocrinological complications. A 16-year-old boy was struck at the face and the forehead on the road in a motorcycle accident and was hospitalized in a confusional state. Neurological examinations showed dilatation of the both pupils, sluggish light reflex on both sides and bilateral oculomotor palsy but motor weakness or sensory disturbance was not present. On the tenth hospital day, he developed diabetes insipidus and endocrinological examinations disclosed the impairment of GH, LH and FSH reserves, too. Neuroradiological examinations disclosed fractures of bilateral frontal bones and fractures of the left optic canal and ethmoidal roof as well as a fracture of the sella turcica. On the 28th hospital day, he also developed CSF rhinorrhea and pneumocephalus. Surgical repair for the CSF rhinorrhea was performed. Fractures of the sella turcica were reviewed in 23 cases including our personal case and a special consideration regarding the mechanism of sellar fractures and their major complications was made. The authors stressed the early recognition of a fracture of the sella turcica in head injuries, which would suggest a severe hypothalamo-pituitary involvement or other neurological disorders.
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PMID:[Fracture of the sella turcica--a case report and review of the literature]. 681 84

Among the low dose oral contraceptives that is to say less than 50 mcg of ethinylestradiol per pill one must single out the pills made of a third generation progestagen (desogestrel, gestodene, norgestimate) from the others. The contraceptive efficacy (tested on the Pearl index) according to the files of government authorities visa (AMM) is equivalent for all the oral contraceptives whatever their composition (between 0 to 0.07 women year). The clinical tolerance of the low dose pills of the 3rd generation is comparable to that of the other low dose pills. Is there any advantage then in prescribing them? The most important advantage is the decrease of metabolic and vascular effects. The use of so-called third generation progestive, besides the beneficial effects an lipidic and glucidic metabolisms, has mainly enabled the decrease of the estrogen doses of progestagens. The ethinylestradiol is directly implicated in the risk of venous thrombosis: hemostasis the modifications are less important with 30 mcg than with 50, 20 than 30 mcg. Relying on theoretical arguments one could have estimated that minipills would lead to an insufficient ovarian slow down. These hypothesis are contradicted by recent studies from Falsetti and Benagiano who studied the rates of FSH and LH under minipills. This does not include the variability and the individual sensitiveness of the patients and as well the reason following which minipills would favor functional ovarian cysts, lies on the confusion made between a cyst and a 20 mm diameter follicule.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Estrogen-progestin contraception. Advantages of estrogen reduction]. 792 Sep 36

A 56-year-old female with Graves' disease who presented with decreased secretion of gonadotropins is described. She was admitted to hospital because of her being in a state of confusion. One month before admission she had been diagnosed as having Graves' disease and was treated with methimazole since then. Plasma LH and FSH levels were undetectable, and their responses to LH-RH were extremely decreased in spite of undetectable levels of plasma estradiol and estriol. One year after treatment, both basal and stimulated values of LH and FSH reverted to normal as did those of TSH. Reversible suppression of gonadotropins as described herein has never been reported in cases of Graves' disease.
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PMID:Decreased secretion of gonadotropins in a patient with Graves' disease. 875 May 76

There are several lines of evidence that point to peptides participating in the regulation of LH and/or FSH levels by action at the pituitary. This evidence includes altered secretion of gonadotropins from the anterior pituitary cells or tissue in vitro when exposed to the peptide. Additionally, modification of GnRH-stimulated LH/FSH secretion has been observed. Furthermore, there is potential for a separately modulated interaction with the primed response. Another potential of action is by interaction among non-GnRH peptides on gonadotropin-regulating processes, although there are no good data available on this aspect. Other observations, consistent with a pituitary role for the peptides in modulation of LH, include detection of the peptides in portal blood, detection of high-affinity receptors or receptor mRNA in the pituitary, and detection of intrapituitary peptide or peptide mRNA in the pituitary. The modulation by steroids of both concentrations and type of activities provides a further level of physiological refinement. There is, however, some confusion regarding the involvement of these peptides in gonadotropin control. The reasons can be seen by considering aspects of investigations. There are experimental variations such as 1) species studied, e.g., NPY has been reported to have an effect on LH secretion from rat cells (168) but not on sheep anterior pituitary tissue (64), and substance P inhibits GnRH-stimulated release from rat cells (182) but potentiates the response in prepubertal porcine cells (92); 2) the steroidal conditions under which the study is performed, e.g., NPY has opposite effects in certain endocrine environments, augmenting GnRH-stimulated LH release in proestrus-like conditions (168), and inhibiting in metestrus-like environment (66); 3) the type of cell preparation, e.g., responsiveness to substance P might depend on whether cells in overnight culture were in separated or clustered state (91); 4) the time course considered, e.g., oxytocin that might induce marked LH release from pituitary cells after a longer length of incubation than GnRH requires (68); 5) length of exposure to peptide, e.g., endothelin that augmented or inhibited GnRH-stimulated LH release (50); 6) In addition, it is possible that the traditional endpoint selected in such studies, namely, observation of gonadotropin secretion, is not necessarily the most important for these peptides (56, 81, 117). Unfortunately, at this stage a definitive answer to the question "What do the peptides actually do?" cannot be provided and we remain tantalized by the glimpses of potential roles. Perhaps in a few years an updated review will be able to include a more complete answer. It is necessary for the full understanding of LH control that not only the properties of the peptides in isolation be characterized but also their interactions.
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PMID:Modulation of gonadotropin levels by peptides acting at the anterior pituitary gland. 1004 73

When results of more than ten different studies on hormone-induced calcium signals in Sertoli cells are taken together, a wide variety of responses emerges. The reported changes range from increased concentrations, via no response at all, to decreased calcium concentrations. Minor variations in cell isolation techniques, culture conditions, or techniques for measuring the intracellular calcium could explain some of these differences. However, erratic variations in response are also observed within research groups under very similar experimental conditions. Such 'negative' findings are mainly reported orally and do not further penetrate the scientific community. As hormone-dependent calcium responses evidently may depend very much on the context of the cells, calcium transients would appear to be unreliable bioassay principles with which to detect the primary actions of FSH and effectors such as androgens on Sertoli cells. A more important biological question is whether these sometimes opposed calcium transients are connected with a particular cellular response. To date there is no evidence for such a tight coupling in Sertoli cells, implying that, at least under in vitro conditions, calcium signals might even be redundant altogether. Such calcium variability is probably not unique to Sertoli cells, and the aim of this commentary is to promote an open debate that may help to transform the current state of 'calcium confusion' into a better understanding of the intracellular calcium language.
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PMID:Calcium confusion--is the variability in calcium response by Sertoli cells to specific hormones meaningful or simply redundant? 1101 47


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