MECHANISMS IN ENDOCRINOLOGY: An update in the genetic aetiologies of combined pituitary hormone deficiency.

Abstract:

:Over the last 5 years, new actors involved in the pathogenesis of combined pituitary hormone deficiency in humans have been reported: they included a member of the immunoglobulin superfamily glycoprotein and ciliary G protein-coupled receptors, as well as new transcription factors and signalling molecules. New modes of inheritance for alterations of genes encoding transcription factors have also been described. Finally, actors known to be involved in a very specific phenotype (hypogonadotroph hypogonadism for instance) have been identified in a wider range of phenotypes. These data thus suggest that new mechanisms could explain the low rate of aetiological identification in this heterogeneous group of diseases. Taking into account the fact that several reviews have been published in recent years on classical aetiologies of CPHD such as mutations of POU1F1 or PROP1, we focused the present overview on the data published in the last 5 years, to provide the reader with an updated review on this rapidly evolving field of knowledge.

journal_name

Eur J Endocrinol

authors

Castinetti F,Reynaud R,Saveanu A,Jullien N,Quentien MH,Rochette C,Barlier A,Enjalbert A,Brue T

doi

10.1530/EJE-15-1095

subject

Has Abstract

pub_date

2016-06-01 00:00:00

pages

R239-47

issue

6

eissn

0804-4643

issn

1479-683X

pii

EJE-15-1095

journal_volume

174

pub_type

杂志文章,评审
  • Endocrinology in the time of COVID-19: Management of pituitary tumours.

    abstract::Patients with pituitary tumours, ensuing hormonal abnormalities and mass effects are usually followed in multidisciplinary pituitary clinics and can represent a management challenge even during the times of non-pandemic. The COVID-19 pandemic has put on hold routine medical care for hundreds of millions of patients ar...

    journal_title:European journal of endocrinology

    pub_type: 杂志文章

    doi:10.1530/EJE-20-0473

    authors: Fleseriu M,Dekkers OM,Karavitaki N

    更新日期:2020-07-01 00:00:00

  • Cushing's syndrome: update on signs, symptoms and biochemical screening.

    abstract::Endogenous pathologic hypercortisolism, or Cushing's syndrome, is associated with poor quality of life, morbidity, and increased mortality. Early diagnosis may mitigate against this natural history of the disorder. The clinical presentation of Cushing's syndrome varies, in part related to the extent and duration of co...

    journal_title:European journal of endocrinology

    pub_type: 杂志文章,评审

    doi:10.1530/EJE-15-0464

    authors: Nieman LK

    更新日期:2015-10-01 00:00:00

  • Changes in bone density and bone markers in rhythmic gymnasts and ballet dancers: implications for puberty and leptin levels.

    abstract:OBJECTIVE:Our aim was to compare physical activity and biochemical markers with bone mineral acquisition in rhythmic gymnasts and ballet dancers. METHODS:Weight, height, body mass index, nutritional intake, bone age and menstrual histories were analyzed in nine rhythmic gymnasts, twelve ballet dancers and fourteen con...

    journal_title:European journal of endocrinology

    pub_type: 杂志文章

    doi:10.1530/eje.0.1510491

    authors: Muñoz MT,de la Piedra C,Barrios V,Garrido G,Argente J

    更新日期:2004-10-01 00:00:00

  • Contrasts in the gonadotropin-releasing hormone dose-response relationships for luteinizing hormone, follicle-stimulating hormone and alpha-subunit release in young versus older men: appraisal with high-specificity immunoradiometric assay and deconvolutio

    abstract::The secretion of luteinizing hormone (LH) and follicle-stimulating hormone (FSH) is regulated by gonadotropin-releasing hormone (GnRH). As men age, mean serum concentrations of immunoreactive gonadotropic hormones tend to increase, while serum testosterone concentrations tend to decline. To evaluate age-related change...

    journal_title:European journal of endocrinology

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:10.1530/eje.0.1350399

    authors: Zwart AD,Urban RJ,Odell WD,Veldhuis JD

    更新日期:1996-10-01 00:00:00

  • Very short term dehydroepiandrosterone treatment in female adrenal failure: impact on carbohydrate, lipid and protein metabolism.

    abstract:OBJECTIVE:In female adrenal insufficiency, dehydroepiandrosterone (DHEA) secretion is impaired and circulating androgen levels are severely reduced. We wanted to analyse the acute effects of physiological DHEA substitution on substrate metabolism. DESIGN:We studied nine females with adrenal insufficiency after 9 days ...

    journal_title:European journal of endocrinology

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:10.1530/eje.1.01810

    authors: Christiansen JJ,Gravholt CH,Fisker S,Møller N,Andersen M,Svenstrup B,Bennett P,Ivarsen P,Christiansen JS,Jørgensen JO

    更新日期:2005-01-01 00:00:00

  • Osteoporosis and male age-related hypogonadism: role of sex steroids on bone (patho)physiology.

    abstract::Male age-related bone loss is caused, at least in part, by hypogonadism that occurs with advancing age. The study of the effects of sex steroids on bone physiology in men has recently highlighted the central role of estrogens on bone pathophysiology. This review focuses on particular aspects of bone physiology and pat...

    journal_title:European journal of endocrinology

    pub_type: 杂志文章,评审

    doi:10.1530/eje.1.02088

    authors: Rochira V,Balestrieri A,Madeo B,Zirilli L,Granata AR,Carani C

    更新日期:2006-02-01 00:00:00

  • Effect of hypocaloric diet-induced weight loss in obese women on plasma apelin and adipose tissue expression of apelin and APJ.

    abstract:OBJECTIVE:Apelin is a novel adipokine acting on APJ receptor, regulated by insulin and tumor necrosis factor-alpha (TNF-alpha) in adipose tissue (AT). Plasma apelin levels are increased in obese hyperinsulinemic subjects. The aim was to investigate whether the hypocaloric diet associated with weight loss modifies the e...

    journal_title:European journal of endocrinology

    pub_type: 临床试验,杂志文章

    doi:10.1530/EJE-08-0039

    authors: Castan-Laurell I,Vítkova M,Daviaud D,Dray C,Kováciková M,Kovacova Z,Hejnova J,Stich V,Valet P

    更新日期:2008-06-01 00:00:00

  • GENETICS IN ENDOCRINOLOGY: Glucocorticoid resistance syndrome

    abstract::Glucocorticoids (GC) such as cortisol regulate multiple physiological functions, notably those involved in development, metabolism, inflammatory processes and stress, and exert their effects upon binding to the glucocorticoid receptor (GR, encoded by NR3C1 gene in humans). GC signaling follows several consecutive step...

    journal_title:European journal of endocrinology

    pub_type: 杂志文章,评审

    doi:10.1530/EJE-19-0811

    authors: Vitellius G,Lombes M

    更新日期:2020-02-01 00:00:00

  • Transition in endocrinology: induction of puberty.

    abstract::Puberty is the period during which we attain adult secondary sexual characteristics and reproductive capability. Its onset depends upon reactivation of pulsative GNRH, secretion from its relative quiescence during childhood, on the background of intact potential for pituitary-gonadal function. This review is intended:...

    journal_title:European journal of endocrinology

    pub_type: 杂志文章,评审

    doi:10.1530/EJE-13-0894

    authors: Dunkel L,Quinton R

    更新日期:2014-06-01 00:00:00

  • Concurrent FOXP3- and CTLA4-associated genetic predisposition and skewed X chromosome inactivation in an autoimmune disease-prone family.

    abstract::CLTA4 is relevant for FOXP3(+)Treg cells, and the link between skewed X chromosome inactivation (XCI) and autoimmunity is recognized. The observation of immune dysregulation polyendocrinopathy enteropathy X-linked syndrome and multiorgan endocrine autoimmune phenomena in various members of one family, associated with ...

    journal_title:European journal of endocrinology

    pub_type: 杂志文章

    doi:10.1530/EJE-12-0197

    authors: Seidel MG,Rami B,Item C,Schober E,Zeitlhofer P,Huber WD,Heitger A,Bodamer OA,Haas OA

    更新日期:2012-07-01 00:00:00

  • Factors controlling testis descent.

    abstract::Descent of the testis from an intra-abdominal site in foetal life to an extracorporeal location after birth is a mandatory developmental process to ensure that the mature testis promotes normal spermatogenesis. The two phases of transabdominal and inguinoscrotal descent occur approximately during the first and last th...

    journal_title:European journal of endocrinology

    pub_type: 杂志文章,评审

    doi:10.1530/EJE-08-0458

    authors: Hughes IA,Acerini CL

    更新日期:2008-12-01 00:00:00

  • MANAGEMENT OF ENDOCRINE DISEASE: Rituximab therapy for Graves' orbitopathy - lessons from randomized control trials.

    abstract::Rituximab (RTX) use in open-label series has been associated with very encouraging responses in patients with active and moderate-to-severe Graves' orbitopathy (GO). Recently, randomized controlled trials of RTX have been performed in such patients to answer the question of clinical efficacy and the safety profile of ...

    journal_title:European journal of endocrinology

    pub_type: 杂志文章,评审

    doi:10.1530/EJE-16-0552

    authors: Stan MN,Salvi M

    更新日期:2017-02-01 00:00:00

  • Mineralocorticoid receptor splice variants in different human tissues.

    abstract::The mineralocorticoid receptor (MR), a member of the steroid receptor family, acts as a transcription factor and mediates both aldosterone and cortisol effects. Aldosterone specificity in some tissues results from the inactivation of competing cortisol into cortisone by 11beta-hydroxysteroid dehydrogenase. In other ti...

    journal_title:European journal of endocrinology

    pub_type: 杂志文章

    doi:10.1530/eje.0.1380702

    authors: Wickert L,Watzka M,Bolkenius U,Bidlingmaier F,Ludwig M

    更新日期:1998-06-01 00:00:00

  • Combined therapy of somatostatin analogues and dopamine agonists in the treatment of pituitary tumours.

    abstract::Pituitary tumours express both somatostatin and dopamine receptors. Medical treatment with somatostatin analogues is a cornerstone of GH- and TSH-secreting tumours, while treatment with dopamine agonists is a cornerstone of prolactin-secreting tumours. Dopamine agonists have also demonstrated some efficacy in patients...

    journal_title:European journal of endocrinology

    pub_type: 杂志文章,评审

    doi:10.1530/eje.1.02348

    authors: Colao A,Filippella M,Pivonello R,Di Somma C,Faggiano A,Lombardi G

    更新日期:2007-04-01 00:00:00

  • Non-glycemic effects of insulin therapy: a comparison between insulin aspart and regular human insulin during two consecutive meals in patients with type 2 diabetes.

    abstract:OBJECTIVE:To control postprandial hyperglycemia in insulin-treated type 2 diabetic patients, prandial therapy with regular human insulin (HI) or fast acting insulin analogs is used. Postprandial hyperglycemia seems to be reduced more effectively with insulin analogs than with normal insulin, but there are no data conce...

    journal_title:European journal of endocrinology

    pub_type: 杂志文章,随机对照试验

    doi:10.1530/EJE-11-0061

    authors: Sourij H,Schmoelzer I,de Campo A,Tripolt NJ,Stojakovic T,Scharnagl H,Kettler-Schmut E,Forst T,Wascher TC

    更新日期:2011-08-01 00:00:00

  • DIAGNOSIS OF ENDOCRINE DISEASE: Endocrine late-effects of childhood cancer and its treatments.

    abstract::Endocrine complications are frequently observed in childhood cancer survivors (CCS). One of two CCS will experience at least one endocrine complication during the course of his/her lifespan, most commonly as a late-effect of cancer treatments, especially radiotherapy and alkylating agent chemotherapy. Endocrine late-e...

    journal_title:European journal of endocrinology

    pub_type: 杂志文章,评审

    doi:10.1530/EJE-17-0054

    authors: Chemaitilly W,Cohen LE

    更新日期:2017-04-01 00:00:00

  • Serum leptin and habitual fatty acid dietary intake in patients with type 1 diabetes mellitus.

    abstract:OBJECTIVE:To study the contribution of a normal intake of nutrients to the variability of serum leptin concentrations in persons with type 1 diabetes mellitus. DESIGN:We studied the relation between serum leptin and nutrient intake in a cross-sectional study. METHODS:Serum leptin measured by radioimmunoassay, nutriti...

    journal_title:European journal of endocrinology

    pub_type: 杂志文章

    doi:10.1530/eje.0.1420263

    authors: Rojo-Martínez G,Soriguer FJ,González-Romero S,Tinahones F,Moreno F,de Adana SR,Garriga MJ,Esteva I,García-Arnés J,Gómez-Zumaquero JM,García-Almeida JM

    更新日期:2000-03-01 00:00:00

  • The growth response to GH treatment is greater in patients with SHOX enhancer deletions compared to SHOX defects.

    abstract:OBJECTIVE:Short stature caused by point mutations or deletions of the short stature homeobox (SHOX) gene (SHOX haploinsufficiency (SHI)) is a registered indication for GH treatment. Patients with a SHOX enhancer deletion (SED) have a similar phenotype, but their response to GH is unknown. It is uncertain if duplication...

    journal_title:European journal of endocrinology

    pub_type: 杂志文章,多中心研究

    doi:10.1530/EJE-15-0451

    authors: Donze SH,Meijer CR,Kant SG,Zandwijken GR,van der Hout AH,van Spaendonk RM,van den Ouweland AM,Wit JM,Losekoot M,Oostdijk W

    更新日期:2015-11-01 00:00:00

  • Effects of sex steroids on bone in women with subclinical or overt endogenous hypercortisolism.

    abstract:OBJECTIVE:Glucocorticoid-induced osteoporosis is the most frequent cause of secondary osteoporosis. Nevertheless, limited data are available on bone status in patients with endogenous cortisol excess. This study is aimed at investigating the role of sex steroids and severity of hypercortisolism on bone mineral density ...

    journal_title:European journal of endocrinology

    pub_type: 杂志文章

    doi:10.1530/EJE-07-0137

    authors: Tauchmanovà L,Pivonello R,De Martino MC,Rusciano A,De Leo M,Ruosi C,Mainolfi C,Lombardi G,Salvatore M,Colao A

    更新日期:2007-09-01 00:00:00

  • Expression of 5'-deiodinase enzymes in normal pituitaries and in various human pituitary adenomas.

    abstract:OBJECTIVE:Local 5'-deiodination of l-thyroxine (T(4)) to active thyroid hormone 3,3',5-tri-iodothyronine (T(3)) catalyzed by the two 5'-deiodinase enzymes (D1 and D2) regulates various T(3)-dependent functions in the anterior pituitary and has been well studied in rodents. Only limited information about deiodinase expr...

    journal_title:European journal of endocrinology

    pub_type: 杂志文章

    doi:10.1530/eje.0.1470263

    authors: Baur A,Buchfelder M,Köhrle J

    更新日期:2002-08-01 00:00:00

  • Possible delayed diagnosis and treatment of metastatic differentiated thyroid cancer by adopting the 2015 ATA guidelines.

    abstract:OBJECTIVE:According to the 2015 American Thyroid Association (ATA) guidelines, thyroid ablation by iodine-131 (I-131) therapy is absolutely recommended only in patients with high-risk differentiated thyroid cancer (DTC). Often distant metastases are not recognized early and they can stay silent for long time. The aim o...

    journal_title:European journal of endocrinology

    pub_type: 杂志文章

    doi:10.1530/EJE-18-0253

    authors: Albano D,Bertagna F,Bonacina M,Durmo R,Cerudelli E,Gazzilli M,Panarotto MB,Formenti AM,Mazziotti G,Giustina A,Giubbini R

    更新日期:2018-09-01 00:00:00

  • Thyroglobulin measurement using highly sensitive assays in patients with differentiated thyroid cancer: a clinical position paper.

    abstract::Differentiated thyroid cancer (DTC) is the most common endocrine cancer and its incidence has increased in recent decades. Initial treatment usually consists of total thyroidectomy followed by ablation of thyroid remnants by iodine-131. As thyroid cells are assumed to be the only source of thyroglobulin (Tg) in the hu...

    journal_title:European journal of endocrinology

    pub_type: 共识发展会议,杂志文章,评审

    doi:10.1530/EJE-14-0148

    authors: Giovanella L,Clark PM,Chiovato L,Duntas L,Elisei R,Feldt-Rasmussen U,Leenhardt L,Luster M,Schalin-Jäntti C,Schott M,Seregni E,Rimmele H,Smit J,Verburg FA

    更新日期:2014-08-01 00:00:00

  • Ipilimumab: a novel immunomodulating therapy causing autoimmune hypophysitis: a case report and review.

    abstract::Ipilimumab (Yervoy; Medarex and Bristol-Myers Squibb) is a human MAB against cytotoxic T-lymphocyte antigen 4, which enhances co-stimulation of cytotoxic T-lymphocytes, resulting in their proliferation and an anti-tumour response. It is licensed for the treatment of unresectable or metastatic malignant melanoma, while...

    journal_title:European journal of endocrinology

    pub_type: 杂志文章,评审

    doi:10.1530/EJE-12-0167

    authors: Juszczak A,Gupta A,Karavitaki N,Middleton MR,Grossman AB

    更新日期:2012-07-01 00:00:00

  • Upregulation of CDKN2A and suppression of cyclin D1 gene expressions in ACTH-secreting pituitary adenomas.

    abstract:OBJECTIVE:Cushing's disease (CD) is usually caused by ACTH-secreting pituitary microadenomas, while silent corticotroph adenomas (SCA) are macroadenomas without Cushingoid features. However, the molecular mechanism(s) underlying their different tumor growth remains unknown. The aim of the current study was to evaluate ...

    journal_title:European journal of endocrinology

    pub_type: 杂志文章

    doi:10.1530/EJE-10-0245

    authors: Tani Y,Inoshita N,Sugiyama T,Kato M,Yamada S,Shichiri M,Hirata Y

    更新日期:2010-10-01 00:00:00

  • Commentary-FSH and bone 2010: evolving evidence.

    abstract::Bone loss due to menopause, natural or artificial, has been attributed solely to low estrogen. However, in a woman's life, the most precipitous bone loss begins 2 years prior to the last menstrual period, during which time estrogen levels are unperturbed whereas FSH is elevated. Our cell-based and mouse genetic studie...

    journal_title:European journal of endocrinology

    pub_type: 杂志文章

    doi:10.1530/EJE-10-0397

    authors: Iqbal J,Sun L,Zaidi M

    更新日期:2010-07-01 00:00:00

  • Ultrasonographic and clinical parameters for early differentiation between precocious puberty and premature thelarche.

    abstract:OBJECTIVE:To determine if uterine and ovarian measurements can significantly distinguish between precocious puberty (PP) and premature thelarche (PT) and whether ultrasound has any advantage over the gonadotropin-releasing hormone (GnRH) stimulation test. DESIGN:Prospective. METHODS:One hundred and three girls referr...

    journal_title:European journal of endocrinology

    pub_type: 杂志文章

    doi:10.1530/eje.1.02151

    authors: de Vries L,Horev G,Schwartz M,Phillip M

    更新日期:2006-06-01 00:00:00

  • MANAGEMENT OF ENDOCRINE DISEASE: Diagnostic and therapeutic approach of tall stature.

    abstract::Tall stature is defined as a height of more than 2 standard deviations (s.d.) above average for same sex and age. Tall individuals are usually referred to endocrinologists so that hormonal disorders leading to abnormal growth are excluded. However, the majority of these patients have familial tall stature or constitut...

    journal_title:European journal of endocrinology

    pub_type: 杂志文章,评审

    doi:10.1530/EJE-16-1054

    authors: Albuquerque EVA,Scalco RC,Jorge AAL

    更新日期:2017-06-01 00:00:00

  • Growth hormone replacement does not increase serum prostate-specific antigen in hypopituitary men over 50 years.

    abstract:OBJECTIVE:Epidemiological studies have shown an increased risk for prostate carcinoma in men with serum IGF-I in the upper part of the age-related reference range. Recombinant human GH (rhGH) is widely used in patients with GH deficiency, usually raising the serum IGF-I levels into the normal range: safety surveillance...

    journal_title:European journal of endocrinology

    pub_type: 临床试验,杂志文章

    doi:10.1530/eje.0.1470059

    authors: le Roux CW,Jenkins PJ,Chew SL,Camacho-Hübner C,Grossman AB,Besser GM,Monson JP

    更新日期:2002-07-01 00:00:00

  • Combined pyridostigmine-thyrotrophin-releasing hormone test for the evaluation of hypothalamic somatostatinergic activity in healthy normal men.

    abstract::Pyridostigmine (PST), a cholinesterase inhibitor, induces a clear growth hormone (GH) release in man by suppression of hypothalamic somatostatin (SRIH). Somatostatin suppresses thyrotrophin (TSH) release in rats and men. Earlier studies showed that the thryotrophin-releasing hormone (TRH)-induced TSH response was not ...

    journal_title:European journal of endocrinology

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:10.1530/eje.0.1330457

    authors: Yang I,Woo J,Kim S,Kim J,Kim Y,Choi Y

    更新日期:1995-10-01 00:00:00

  • Autoimmune thyroid disease: propagation and progression.

    abstract::Autoimmune thyroid disease is the archetype for organ-specific autoimmune disorders. Progress in treating these disorders lies in improvements of our understanding of the predisposing factors responsible, the mechanisms responsible for progression of disease, and the interaction between thyroid antigens and the immune...

    journal_title:European journal of endocrinology

    pub_type: 杂志文章,评审

    doi:10.1530/eje.0.1480001

    authors: Weetman AP

    更新日期:2003-01-01 00:00:00