Mutations of LH and FSH receptors.

Abstract:

:Gonadotropins control male and female gonadal function by acting through specific receptors. The recent description of several mutations in LH and FSH receptors has significantly improved our understanding of the pathophysiology of several sexual disorder. Both gain- and loss-of-function germline mutations leading to constitutive receptor activation or to hormone resistance have been described. The clinical impact of these mutant receptors can be markedly different, depending upon the sex of the affected patient and the degree of functional alteration. Numerous mutations were described in LH receptor gene. Constitutive activation of this receptor leads to male-limited precocious pseudopuberty, whereas hypergonadotropic hypogonadism is the clinical phenotype of LH resistance. On the other hand, few mutations of FSH receptor were described so far. Inactivating mutations of FSH receptor are involved in some cases of hypergonadotropic hypogonadism with a more severe impairment of fertility in female patients. Only one gain-of-function mutation of FSH receptor was reported to maintain fertility in one hypophysectomized man. This review is focused on the known genetic alterations of gonadotropic receptors in humans and their impact on male sexual differentiation and fertility.

journal_name

J Endocrinol Invest

authors

Beck-Peccoz P,Romoli R,Persani L

doi

10.1007/BF03343777

keywords:

subject

Has Abstract

pub_date

2000-10-01 00:00:00

pages

566-72

issue

9

eissn

0391-4097

issn

1720-8386

journal_volume

23

pub_type

杂志文章,评审
  • Influence of the neonatal suppression of TSH production (neonatal hyperthyroidism) on response to TSH in adulthood.

    abstract::Six-day treatment of neonatal rats with T3 or T4 resulted in a considerable depression of T4 production in response to exogenous TSH in adulthood. This supports the hypothetical conclusion that hormonal imprinting, i.e. the presence of the hormone and its interaction with the cell during the period of receptor maturat...

    journal_title:Journal of endocrinological investigation

    pub_type: 杂志文章

    doi:10.1007/BF03348561

    authors: Csaba G,Nagy SU

    更新日期:1985-12-01 00:00:00

  • The modulation of glucocorticoid receptor content by 3-O-methyl-D-glucose transport in human mononuclear leukocyte in obesity.

    abstract::Glucocorticoid receptors (GR) and 3-O-methyl-D glucose (3-O-MG) transport were determined in mononuclear leukocytes (MNL) from 11 abdominal obese subjects, 10 pituitary-dependent Cushing's syndrome (Cushing's disease) and 10 healthy controls. Using a whole-cell competitive binding assay and 3H-dexamethasone as tracer,...

    journal_title:Journal of endocrinological investigation

    pub_type: 杂志文章

    doi:10.1007/BF03350794

    authors: Güven M,Hatemi H,Taşan E,Altuntaş Y,Ulutin T,Tezcan V,Kanigür-Sultuybek G

    更新日期:1998-11-01 00:00:00

  • Insulin receptor binding and degradation in IM-9 cultured human lymphocytes - importance of extracellular degradation.

    abstract::Insulin degradation in IM-9 cultured human lymphocytes occurs extracellularly. In the presence of 0.1% bovine serum albumin, insulin degradation products are formed that are soluble in 5% trichloroacetic acid. In the presence of 5% bovine serum albumin, the major products of insulin degradation are insoluble in 5% tri...

    journal_title:Journal of endocrinological investigation

    pub_type: 杂志文章

    doi:10.1007/BF03348223

    authors: Misbin RI,Mehl TD

    更新日期:1980-01-01 00:00:00

  • Supplementation with L-arginine favorably influences plasminogen activator inhibitor type 1 concentration in obese patients. A randomized, double blind trial.

    abstract:BACKGROUND:Elevated plasminogen activator inhibitor type 1 (PAI 1) plays an important role in the pathogenesis of excess blood coagulability in obese patients. L-arginine supplementation has shown to be associated with enhanced cardiovascular and metabolic health. The aim of the study was to assess the effect of L-argi...

    journal_title:Journal of endocrinological investigation

    pub_type: 杂志文章,随机对照试验

    doi:10.3275/8467

    authors: Bogdanski P,Szulinska M,Suliburska J,Pupek-Musialik D,Jablecka A,Witmanowski H

    更新日期:2013-04-01 00:00:00

  • A case of Graves' disease associated with polymyositis.

    abstract::A patient with Graves' disease associated with severe muscle weakness who was finally diagnosed as polymyositis by pathological examination of the muscle is reported. A 28-year-old women was incidentally found to have hyperthyroidism when she consulted a hospital for the evaluation and treatment of anemia in 1979. She...

    journal_title:Journal of endocrinological investigation

    pub_type: 杂志文章

    doi:10.1007/BF03350077

    authors: Sakata S,Fuwa Y,Goshima E,Nakamura S,Yamakita N,Maeda M,Miura K

    更新日期:1989-12-01 00:00:00

  • Association between biochemical control and comorbidities in patients with acromegaly: an Italian longitudinal retrospective chart review study.

    abstract:PURPOSE:Achieving biochemical control (normalization of insulin-like growth factor-1 [IGF-1] and growth hormone [GH]) is a key goal in acromegaly management. However, IGF-1 and GH fluctuate over time. The true potential impact of time-varying biochemical control status on comorbidities is unclear and relies on multiple...

    journal_title:Journal of endocrinological investigation

    pub_type: 杂志文章

    doi:10.1007/s40618-019-01138-y

    authors: Colao A,Grasso LFS,Di Cera M,Thompson-Leduc P,Cheng WY,Cheung HC,Duh MS,Neary MP,Pedroncelli AM,Maamari R,Pivonello R

    更新日期:2020-04-01 00:00:00

  • Effect of ethanol infusion on the pituitary-testicular responsiveness to gonadotropin releasing hormone and thyrotropin releasing hormone in normal males and in chronic alcoholics presenting with hypogonadism.

    abstract::Nine chronic male alcoholics presenting with hypogonadism but without overt liver failure were examined under baseline conditions and after acute injection of gonadotropin releasing hormone (GnRH, 100 micrograms iv) and thyrotropin releasing hormone (TRH, 200 micrograms iv), performed at 60 min of a 3-h infusion of sa...

    journal_title:Journal of endocrinological investigation

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:10.1007/BF03348339

    authors: Bertello P,Gurioli L,Faggiuolo R,Veglio F,Tamagnone C,Angeli A

    更新日期:1983-12-01 00:00:00

  • Fasting and post-prandial glycemia and their correlation with glycated hemoglobin in Type 2 diabetes.

    abstract:OBJECTIVE:The relative contribution of fasting and post-prandial glucose to glycated hemoglobin (HbA1c) is controversial. In the present study, we assessed the relationship with HbA1c of fasting and post-prandial glucose measured in a more naturalistic setting, through home glucose self-monitoring or with a continuous ...

    journal_title:Journal of endocrinological investigation

    pub_type: 杂志文章

    doi:10.1007/BF03344161

    authors: Monami M,Lamanna C,Lambertucci L,Longo R,Cocca C,Addante F,Lotti E,Masotti G,Marchionni N,Mannucci E

    更新日期:2006-07-01 00:00:00

  • Does early response to intravenous glucocorticoids predict the final outcome in patients with moderate-to-severe and active Graves' orbitopathy?

    abstract:PURPOSE:Intravenous glucocorticoids (ivGCs) given as 12-weekly infusions are the first-line treatment for moderate-to-severe and active Graves' orbitopathy (GO), but they are not always effective. In this study, we evaluated whether response at 6 weeks correlated with outcomes at 12 (end of intervention) and 24 (follow...

    journal_title:Journal of endocrinological investigation

    pub_type: 杂志文章

    doi:10.1007/s40618-017-0608-z

    authors: Bartalena L,Veronesi G,Krassas GE,Wiersinga WM,Marcocci C,Marinò M,Salvi M,Daumerie C,Bournaud C,Stahl M,Sassi L,Azzolini C,Boboridis KG,Mourits MP,Soeters MR,Baldeschi L,Nardi M,Currò N,Boschi A,Bernard M,von Arx

    更新日期:2017-05-01 00:00:00

  • Efficacy and safety of growth hormone treatment in children with short stature: the Italian cohort of the GeNeSIS clinical study.

    abstract:PURPOSE:We examined auxological changes in growth hormone (GH)-treated children in Italy using data from the Italian cohort of the multinational observational Genetics and Neuroendocrinology of Short Stature International Study (GeNeSIS) of pediatric patients requiring GH treatment. METHODS:We studied 711 children (me...

    journal_title:Journal of endocrinological investigation

    pub_type: 杂志文章,多中心研究

    doi:10.1007/s40618-015-0418-0

    authors: Cappa M,Iughetti L,Loche S,Maghnie M,Vottero A,GeNeSIS National Board on behalf of the GeNeSIS Italian Investigators.

    更新日期:2016-06-01 00:00:00

  • Acromegaly: effects on bone metabolism and mass.

    abstract::GH has a pivotal role in maintaining bone mass and metabolism both during childhood and in adult life. This effect depends on a complex interaction between circulating and peripherically produced GH and IGF-I. In vitro data and the use of genetically modified animals have greatly expanded the understanding of regulato...

    journal_title:Journal of endocrinological investigation

    pub_type: 杂志文章,评审

    doi:

    authors: Bogazzi F,Cosci C,Sardella C,Martino E,Gasperi M

    更新日期:2005-01-01 00:00:00

  • The effect of prednisone on serum thyrotropin, thyroxine and triiodothyronine concentrations in hypothyroid patients.

    abstract::The effect of exogenous prednisone on serum thyrotropin (TSH), thyroxine (T4), and triiodothyronine (T3) concentrations was investigated in four patients with non-functioning thyroid glands receiving T4 replacement therapy. Orally administered prednisone, in a dose of 20 mg each day for nine days, resulted in a signif...

    journal_title:Journal of endocrinological investigation

    pub_type: 杂志文章

    doi:10.1007/BF03350367

    authors: Jensen J,Nolan G,Jubiz W

    更新日期:1978-04-01 00:00:00

  • A new test for the diagnosis of growth hormone deficiency due to primary pituitary impairment: combined administration of pyridostigmine and growth hormone-releasing hormone.

    abstract::The diagnosis of growth hormone (GH) deficiency (GHD) is currently based on failure to increase plasma GH levels to an arbitrary cutoff point of 7 or 10 micrograms/l in response to two provocative stimuli. False negative responses to these tests, however, frequently occur thus reducing their diagnostic reliability. Th...

    journal_title:Journal of endocrinological investigation

    pub_type: 杂志文章

    doi:10.1007/BF03349569

    authors: Ghigo E,Imperiale E,Boffano GM,Mazza E,Bellone J,Arvat E,Procopio M,Goffi S,Barreca A,Chiabotto P

    更新日期:1990-04-01 00:00:00

  • Correlation between plasma levels of ACTH and beta-endorphin in the first seven days of postnatal life.

    abstract::Plasma adrenocorticotropic hormone (ACTH) and beta-endorphin (beta-EP) concentrations were measured by radioimmunoassay in 122 newborns, born vaginally after spontaneous labor between the 38th and the 41st week of pregnancy. Blood samples were taken from umbilical cord in 10 newborns and from antecubital vein in the r...

    journal_title:Journal of endocrinological investigation

    pub_type: 杂志文章

    doi:10.1007/BF03349064

    authors: Gemelli M,Mamì C,Manganaro R,De Luca F,Saja A,Costa G

    更新日期:1988-06-01 00:00:00

  • Acute cardiovascular and hormonal effects of GH and hexarelin, a synthetic GH-releasing peptide, in humans.

    abstract::Reduced cardiac mass and performances are present in GH deficiency and are counteracted by rhGH replacement. GH and IGF-I possess specific myocardial receptors and have been reported able to exert an acute inotropic effect. Synthetic GH secretagogues (GHS) possess specific pituitary and hypothalamic but even myocardia...

    journal_title:Journal of endocrinological investigation

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:10.1007/BF03343555

    authors: Bisi G,Podio V,Valetto MR,Broglio F,Bertuccio G,Del Rio G,Arvat E,Boghen MF,Deghenghi R,Muccioli G,Ong H,Ghigo E

    更新日期:1999-04-01 00:00:00

  • Pituitary-adrenal dynamics after ACTH-secreting pituitary tumor resection in patients receiving no steroids post-operatively.

    abstract::It has recently been suggested that the classical routine of glucocorticoid administration before and after transsphenoidal surgery (TSS) in Cushing's disease (CD) patients may not be necessary, since it is likely that peritumoral normal corticotrophs are not completely suppressed during this period. We compared the d...

    journal_title:Journal of endocrinological investigation

    pub_type: 杂志文章

    doi:10.1007/BF03347237

    authors: Pimentel-Filho FR,Silva ME,Nogueira KC,Berger K,Cukiert A,Liberman B

    更新日期:2005-06-01 00:00:00

  • Isolated growth hormone deficiency after severe head trauma.

    abstract::In a 12-yr-old boy growth arrest occurred after severe head trauma. Evaluation of pituitary endocrine function revealed isolated growth hormone (GH) deficiency. Lack of GH response to GH-releasing factor indicated that the responsible lesion was most likely to be localized in the pituitary gland. GH substitution resul...

    journal_title:Journal of endocrinological investigation

    pub_type: 杂志文章

    doi:10.1007/BF03349069

    authors: Eichler I,Frisch H,Eichler HG,Soukop W

    更新日期:1988-06-01 00:00:00

  • Study of bioassayable somatomedin on renal artery and vein.

    abstract::Somatomedin was measured by rat bioassay in samples obtained from renal artery and vein, in order to study the role of this organ in the production of somatomedin activity. The results showed a significant difference, with an increase of the activity in the venous samples. According to the data reported in the literat...

    journal_title:Journal of endocrinological investigation

    pub_type: 杂志文章

    doi:10.1007/BF03350423

    authors: Minuto F,Barreca A,Grimaldi P,Cocco R,Garibotto G,Ferrini S,Giordano G

    更新日期:1979-07-01 00:00:00

  • Cognitive functions and mood during chronic thyrotropin-suppressive therapy with L-thyroxine in patients with differentiated thyroid carcinoma.

    abstract:BACKGROUND:Subclinical thyroid dysfunctions may cause cognitive deficits and mood disorders. Chronic TSH-suppressive therapy with L-T(4) causing subclinical hyperthyroidism has been widely used in treatment of patients with thyroid differentiated carcinoma. The impact of this therapy on cognitive functions and mood hav...

    journal_title:Journal of endocrinological investigation

    pub_type: 杂志文章

    doi:10.3275/8013

    authors: Jaracz J,Kucharska A,Rajewska-Rager A,Lacka K

    更新日期:2012-09-01 00:00:00

  • Lesion of the amygdala on the right and left side suppresses testosterone secretion but only left-sided intervention decreases serum luteinizing hormone level.

    abstract::The effect of right- and left-sided intra-amygdaloid injection of kainic acid on the hypothalamo-hypophyseal-testicular axis was studied in rats. Both right- and left-sided injection of the neurotoxin into the amygdala resulted in a significant decrease in basal testosterone secretion in vitro of both testes and in se...

    journal_title:Journal of endocrinological investigation

    pub_type: 杂志文章

    doi:10.1007/BF03345198

    authors: Banczerowski P,Csaba Z,Csernus V,Gerendai I

    更新日期:2003-05-01 00:00:00

  • Ovarian steroids modulate neuroendocrine dysfunction in polycystic ovary syndrome.

    abstract:OBJECTIVE:Neuroendocrine dysfunction in polycystic ovary syndrome (PCOS) was addressed by studying the steroid hormone changes in women with PCOS with either high or normal LH levels leading to inferences regarding the primacy of elevated LH in the pathophysiology of PCOS. METHODS:A cross-sectional study was designed ...

    journal_title:Journal of endocrinological investigation

    pub_type: 杂志文章

    doi:10.1007/BF03345319

    authors: Doi SA,Al-Zaid M,Towers PA,Scott CJ,Al-Shoumer KA

    更新日期:2005-11-01 00:00:00

  • Effect of 1,25-dihydroxyvitamin D3 and nifedipine on prolactin release in normal man.

    abstract::In normal man 1,25 (OH)2-vitamin D3 [1,25 (OH)2D] increases both basal and TRH-stimulated prolactinemia; this effect is completely reversible by the calcium antagonist nifedipine. Similarly the 1,25 (OH)2D-induced hypercalcemia is totally inhibited by nifedipine. These findings suggest that both biological effects of ...

    journal_title:Journal of endocrinological investigation

    pub_type: 杂志文章

    doi:10.1007/BF03350657

    authors: Verbeelen D,Vanhaelst L,Fuss M,Van Steirteghem AC

    更新日期:1985-04-01 00:00:00

  • Growth hormone and somatostatin directly inhibit gastric ghrelin secretion. An in vitro organ culture system.

    abstract::Ghrelin is a 28-amino-acid hormone produced mainly by the stomach which strongly promotes food intake. It is the only known peripheral orexigenic hormone that induces the release of GH. Ghrelin has been proposed as a link between the enteric system and central regulation of energy balance and growth. Although it has r...

    journal_title:Journal of endocrinological investigation

    pub_type: 杂志文章

    doi:10.1007/BF03350806

    authors: Seoane LM,Al-Massadi O,Barreiro F,Dieguez C,Casanueva FF

    更新日期:2007-10-01 00:00:00

  • Prevalence of cardiovascular risk factors in male and female patients with primary hyperparathyroidism.

    abstract:OBJECTIVE:To investigate the prevalence of cardiovascular risk factors in patients with primary hyperparathyroidism (PHPT) and to determine if they are gender specific. METHODS:This was a retrospective case control study. Three hundred and sixty-three men and women with PHPT and 363 age-, sex-, and body mass index (BM...

    journal_title:Journal of endocrinological investigation

    pub_type: 杂志文章

    doi:10.3275/7861

    authors: Han D,Trooskin S,Wang X

    更新日期:2012-06-01 00:00:00

  • Partially compensated hypoadrenalism presenting with persistent skin pigmentation.

    abstract::A 33-year-old female presented in 1966 with striking pigmentation, typical of Addison's disease, and amenorrhea. Endocrine assessment then showed normal basal serum cortisol and urinary hydroxysteroid levels, but serum cortisol did not respond to stimulation with either exogenous ACTH or lysine vasopressin. Steroid re...

    journal_title:Journal of endocrinological investigation

    pub_type: 杂志文章

    doi:10.1007/BF03349957

    authors: Whitehead EM,Atkinson AB,Hadden DR,Weaver J,Sheridan B

    更新日期:1989-03-01 00:00:00

  • Effect of chronic endogenous hypercalcemia on prolactin and thyrotropin responsiveness in man.

    abstract::To investigate whether chronic endogenous hypercalcemia influences TSH and/or PRL release from pituitary thyrotrophs and lactotrophs in man, 10 patients with endogenous hypercalcemia, due either to cancer or to primary hyperparathyroidism, were injected with 25 micrograms TRH iv. The TSH and PRL responses were compare...

    journal_title:Journal of endocrinological investigation

    pub_type: 杂志文章

    doi:10.1007/BF03349498

    authors: Röjdmark S,Edström E,Nordlund M

    更新日期:1984-12-01 00:00:00

  • Urinary growth hormone excretion rates in normal and acromegalic man: a critical appraisal of its potential clinical utility.

    abstract::The assessment of growth hormone (GH) secretory status is often difficult because of the intermittent nature of GH release and resulting wide swings in plasma GH levels. Urinary GH excretion holds promise as an index of integrated plasma GH free of this limitation, but technical problems have prevented its use until r...

    journal_title:Journal of endocrinological investigation

    pub_type: 杂志文章

    doi:10.1007/BF03350732

    authors: Winer LM,Shaw MA,Baumann G

    更新日期:1989-07-01 00:00:00

  • Prevalence of overweight/obesity, abdominal obesity and metabolic syndrome and atypical cardiometabolic phenotypes in the adult Romanian population: PREDATORR study.

    abstract:PURPOSE:The objectives were to assess the prevalence of overweight/obesity, abdominal obesity and metabolic syndrome (MetS), and to evaluate the characteristics of the metabolically unhealthy lean (MUHL) and metabolically healthy overweight/obese (MHO) phenotypes in a Romanian population-based sample from the PREDATORR...

    journal_title:Journal of endocrinological investigation

    pub_type: 杂志文章

    doi:10.1007/s40618-016-0470-4

    authors: Popa S,Moţa M,Popa A,Moţa E,Serafinceanu C,Guja C,Catrinoiu D,Hâncu N,Lichiardopol R,Bala C,Popa A,Roman G,Radulian G,Timar R,Mihai B

    更新日期:2016-09-01 00:00:00

  • Association between bone mineral density and nonalcoholic fatty liver disease in Korean adults.

    abstract:PURPOSE:Nonalcoholic fatty liver disease (NAFLD) is associated with various metabolic abnormalities that can increase the risk of an osteoporotic fracture. Across the few previous studies of the association between NAFLD and bone mineral density (BMD), the association was not consistent. We examined the association bet...

    journal_title:Journal of endocrinological investigation

    pub_type: 杂志文章

    doi:10.1007/s40618-016-0528-3

    authors: Lee SH,Yun JM,Kim SH,Seo YG,Min H,Chung E,Bae YS,Ryou IS,Cho B

    更新日期:2016-11-01 00:00:00

  • The growth hormone response to hexarelin in patients with Prader-Willi syndrome.

    abstract::Hexarelin (Hex) is a synthetic hexapeptide with potent GH-releasing activity in both animals and men. Aim of this study was to evaluate the GH response to a maximal dose of Hex and GH-releasing hormone (GHRH) in a group of patients with Prader-Willi syndrome (PWS). Seven patients (4 boys and 3 girls, age 2.4-14.2 yr) ...

    journal_title:Journal of endocrinological investigation

    pub_type: 杂志文章

    doi:10.1007/BF03347335

    authors: Cappa M,Raguso G,Palmiotto T,Faedda A,Gurreri F,Neri G,Deghenghi R,Loche S

    更新日期:1998-09-01 00:00:00