Sylvie Brailly-Tabard- Hôpital Bicêtre (Hôpitaux Universitaires Paris-Sud)
Sylvie Brailly-Tabard
- Hôpital Bicêtre (Hôpitaux Universitaires Paris-Sud)
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193
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Publications
Publications (193)
Context
In men with congenital hypogonadotropic hypogonadism (CHH), gonadotropin deficiency and testicular impairment exist since fetal development and persist throughout life. In few reported cases of acquired HH (AHH), HH onset occurs mainly post-pubertally.
Objective
To compare the natural history and reproductive status in large series of CHH...
Objectif
Comparer histoire naturelle, données cliniques et profils hormonaux gonadotropes/testiculaires chez des hommes avec HHA lésionnel versus ceux avec HHC.
Patients/Méthodes
201 hommes HHC, 467 HHA et 172 sujets contrôles évalués par la même méthodologie.
Résultats
Le volume testiculaire moyen (VTm) et les hormones LH, FSH, testostérone tota...
Study question:
Are GnRH tests and serum inhibin B levels sufficiently discriminating to distinguish transient constitutional delay of growth and puberty (CDGP) from congenital hypogonadotropic hypogonadism (CHH) that affects reproductive health for life?
Summary answer:
Both parameters lack the specificity to discriminate CDGP from CHH.
What i...
Background: In patients with pituitary stalk interruption syndrome (PSIS), long-term follow-up is necessary to address their gonadotrophic status. The objectives of this study were (1) to describe pubertal features of and (2) to assess the ability of serum inhibin B concentration to predict hypogonadotropic hypogonadism (HH) in patients with PSIS....
Purpose:
Previous studies yielded controversial findings on the association of testosterone with mortality in older men. Heterogeneity might be partially explained by comorbidities and the presence of metabolic syndrome, and differential associations according to causes of death.
Methods:
We used data from a random subsample of the Three-City st...
X-linked hypophosphatemia (XLH) is characterized by increased activity of circulating FGF23 resulting in renal phosphate wasting and abnormal bone mineralization. Hyperparathyroidism may develop in XLH patients; however its prevalence, pathogenesis and clinical presentation are not documented. This observational study (CNIL 2171036 v 0) recruited X...
Background
Non-classic 21-hydroxylase deficiency is usually diagnosed in post-pubertal women because of androgen excess. Indication of systematic steroid replacement therapy is controversial because the risk of acute adrenal insufficiency is unknown. In order to specify this risk we evaluated the cortisol and aldosterone secretions in response to a...
Background:
In rodents, the stimulation of adrenal progesterone is necessary for renal adaptation under potassium depletion. Here, we sought to determine the role of progesterone in adrenal adaptation in potassium-depleted healthy human volunteers and compared our findings with data collected in patients with Gitelman syndrome (GS), a salt-losing...
Una hormona es una molécula producida por una glándula endocrina y transportada por vía sanguínea para ejercer su acción sobre las células diana. En este artículo, se tratarán los distintos métodos de determinación de estas hormonas y se hablará de las interferencias que pueden llevar a un resultado erróneo que desoriente al médico en su diagnóstic...
Context
Untreated acromegaly is associated with increased morbidity and mortality due to malignant, cardiovascular, and cerebrovascular disorders. Effective treatment of acromegaly reduces excess mortality, but its impact on cardiovascular risk factors and metabolic parameters are poorly documented.
Aim
We analyzed changes in cardiovascular risk f...
Objective
To compare the serum inhibin B, anti-Müllerian hormone (AMH) and leptin concentrations in girls with idiopathic central precocious puberty (CPP) to their concomitant characteristics and evaluate the capacity of each of these hormones to predict the age at first menstruation in those who were untreated and who completed their puberty.
Met...
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In this study, we examined whether reduction in the intake of K ⁺ induce lasting changes in the plasma concentration of circulating steroids. We have previously shown that plasma progesterone (PG) levels specifically increases in response to chronic and sustained K ⁺ depletion in male and female mice. In this physiological context, progesterone reg...
Les adénomes hypophysaires somatotropes expriment majoritairement les récepteurs à la somatostatine (SSTR) SSTR2a et SSTR5. Cette expression est variable. Ces récepteurs sont la cible des analogues de la somatostatine. Des études rétrospectives suggèrent une association significative entre l’expression des SSTR et la réponse au traitement par octré...
Context
Although endogenous estradiol, generally considered as the female hormone, has been little investigated in men, it could play a role in men's health, mortality in particular. The influence of estrogen receptors (ER) genetic polymorphisms on this relationship has never been studied.
Design and Participants
The Three‐City cohort study includ...
Study question:
What are the consequences of radioactive iodine (RAI) therapy for testicular function?
Summary answer:
A single activity of 3.7 GBq RAI for differentiated thyroid carcinoma (DTC) treatment in young men transiently altered Sertoli cell function and induced sperm chromosomal abnormalities.
What is known already:
Few studies, main...
Objective:
Autism and certain associated behaviors including self-injurious behaviors (SIB) and atypical pain reactivity have been hypothesized to result from excessive opioid activity. The objective of this study was to examine the relationships between SIB, pain reactivity, and β-endorphin levels in autism.
Methods:
Study participants were rec...
Previous studies have shown controversial results about the role of testosterone in all-cause mortality in elderly men. We hypothesized that metabolic syndrome (MetS) could partly explain this discrepancy. We therefore examined the association of all-cause mortality with total and bioavailable testosterone, taking into account the MetS. We used dat...
Background
Classic Rett Syndrome (RS) is a disabling condition mainly caused by MECP2 mutations. Girls with RS are at risk of developing bone fragility and fractures at a young age which results in pain and may seriously impair quality of life.
Objective
To retrospectively assess the safety and efficacy of IV bisphosphonates on fracture, bone mine...
MECP2 mutations and bone mineral density in 19 children.
(TIFF)
MECP2 mutations in 19 patients (one patient had a mutation mentionned in the medical notes but the type of mutation was not available).
(DOCX)
Background
Hyperprolactinemia-induced hypogonadotropic amenorrhea (hPRL-HA) is a major cause of hypothalamic GnRH deficiency in women. In hyperprolactinemic mice we previously demonstrated that hypothalamic kisspeptin (Kp) expression was diminished and that Kp administration restored hypothalamic GnRH release, gonadotropin secretion, and ovarian cy...
Contexte
L’hypophosphatémie génétique héréditaire (HGH) s’accompagne d’une production excessive de FGF23 ayant pour conséquence une perte rénale de phosphore. Le traitement de l’HGH repose sur les dérivés 1α-hydroxylés de la vitamine D et la supplémentation pluriquotidienne en phosphore qui peut favoriser le développement d’une hyperparathyroïdie....
Contexte
Les Mut-GNRHR sont responsables comme le SOPK d’anovulation/oligoménorrhée/aménorrhée chez la femme.
Objectif
Comparer une série de femmes Mut-GNRHR et de SOPK pour mieux les différentier sur le plan clinique, échographique et hormonal.
Patientes et méthodes
Vingt-huit femmes normales et à 21 femmes, avec déficit congénital en GnRH (IHH)...
Aims:
Despite the involvement of the brain-derived neurotrophic factor (BDNF) in the physiopathology of major depressive disorder (MDD), the coherence between the components of the BDNF pathway and their link with the clinical features of MDD are insufficiently studied. We aimed to assess in Caucasian depressed patients the impact of the BDNF Val6...
Background
Very few studies have examined occupational exposures in jobs that are typically performed by women. WELCA study aims at investigating the aetiology of lung cancer in women, focusing particularly on hormonal and occupational risk factors.
Methods
WELCA is a population based case-control study in progress (1000 ca/1000 co) ending in 2017...
Context:
IGF-I measurement is essential for the diagnosis and management of GH disorders. However, patient classification may vary substantially according to the assay technique.
Objective:
We compared individual patient data and classifications obtained with six different IGF-I assay kits in a group of patients with various GH disorders.
Mater...
This article focuses on stress vulnerability in schizophrenia through an integrated clinical and biological approach. The objective of this article is to better understand the relationships between vulnerability, stress and schizophrenia. First, the concept of vulnerability is defined and several models of vulnerability in schizophrenia are reviewe...
Context
Accurate measurements of circulating hormones is essential for the practice of endocrinology. Immunometric assays employing the streptavidin-biotin system are widely used to measure hormones. However, these assays are susceptible to interference in patients taking biotin supplementations. This interference could mimic a coherent hormone pro...
Context
Cabergoline (CAB) is very effective in the treatment of macroprolactinomas, but there are few data on the CAB dose necessary to achieve and maintain normal prolactin (PRL) levels.
Design and Patients
We retrospectively studied 260 patients. CAB was introduced at a mean dose of 0.83 ± 0.52 mg/wk. When the PRL level had normalized, the patie...
Background:
Lung cancer aetiology and clinical aspects have been mainly studied in men, although specific risk factors probably exist in women. Here we present the rationale, design and organization of the WELCA study (Women Epidemiology Lung CAncer) that has been launched to investigate lung cancer in women, focusing particularly on hormonal and...
Context:
Isolated hypogonadotropic hypogonadism (IHH), characterized by gonadotropin deficiency and absent puberty, is very rare in women. IHH prevents pubertal ovarian stimulation, but anti-Mullerian hormone (AMH) and antral follicle count (AFC), have not been studied.
Objectives:
1) Compare, in IHH versus controls, AMH, ovarian volume (OV) and...
Since serum Brain Derived Neurotrophic Factor (BDNF) levels are higher in tobacco smokers than in non-smokers and since Major Depressive Disorder (MDD) is associated with a 2-fold increased risk of smoking, we assessed the association of smoking and plasma BDNF levels in 359 depressed MDD patients. Plasma BDNF levels were positively correlated with...
Introduction
Le SK provoque généralement un hypogonadisme persistant, mais chez une minorité une récupération spontanée de l’axe gonadotrope a été observée. SOX10, dont les mutations provoquent un SK, est impliqué dans la différentiation des cellules souches de la crête neurale (CSCN) en neurones à GnRH (GnRHn). Aucun cas de SK réversible impliquan...
Contexte
L’HHC est caractérisé par un déficit gonadotrope présent depuis la vie fœtale, alors que l’HHA apparaît le plus souvent après la puberté. La fonction gonadotrope dans ces deux entités nosologiques n’a jamais été comparée sur des grandes séries.
Patients
Deux cent soixante-cinq HHC et 404 HHA ont été évalués. Les volumes testiculaires (VT)...
Introduction
L’association d’une atteinte simultanée des fonctions endocrines surrénaliennes et gonadiques (IG/IS) est rare et peu de gènes ont été identifiés.
Objectif
Faire le diagnostic génétique chez des patients adultes nés avec une IG/IS sans cause identifiée.
Patients
Une famille (F1) consanguine atteinte d’IG et IS d’apparition néonatale....
Contexte
L’analyse des fonctions testiculaires par la mesure de la testostérone (T) chez les hommes acromégales (HACRO) est perturbée par la baisse fréquente de la SHBG. L’Insulin-Like Factor 3 (INSL3) est un marqueur testiculaire peptidique non lié à la SHBG qui pourrait mieux refléter la fonction leydigienne.
Patients
Cent soixante HACRO ont été...
Contexte
Le test GnRH/LHRH est largement utilise dans l’exploration des HHC. Pourtant, son interet, qui n’a pas ete evalue, est incertain.
Objectif
Evaluer les reponses des gonadotrophines a cette stimulation chez des HHC/SK, RPS et des hommes normaux (C) de facon a preciser ses performances diagnostiques.
Patients et methodes
Etude chez 127 HHC do...
Contexte
Les HHC/SK sont une cause majeure de retard pubertaire et de maturation osseuse par déficit en stéroïdes sexuels. Les TF/TC n’ont pas été évaluées dans une grande série de patients HHC/SK. L’objectif de cette étude a été de comparer les TF/TC dans une grande cohorte monocentrique.
Patients
À partir de 410 patients HHC/SK, nous avons sélec...
Congenital hypogonadotropic hypogonadism (CHH) with either normal olfaction or anosmia (Kallmann syndrome (KS)) is a cause of pubertal failure secondary to pituitary gonadotropin deficiency. It appears during fetal life and persists throughout the postnatal, pre- and post-pubertal periods (1). For many years KS was considered to be a genetic disord...
Objective:
To compare the testicular Color Doppler ultrasound (US), hormone levels, and histological results from 67 infertile men with Klinefelter syndrome (KS), vs. 66 non-KS non-obstructive azoospermic men.
Methods:
Scrotal US images were collected from 67 infertile KS and 66 non-obstructive, non-KS azoospermic men. The testis volume, echotex...
The U.S. Institute of Medicine considers that a serum 25-hydroxyvitamin D (25OHD) concentration >20 ng/mL corresponds to optimal vitamin D status in the general population. Old studies of vitamin D status in the French general population have demonstrated high prevalence of insufficiency. We measured serum 25OHD, 1,25(OH)2D, PTH, calcium, phosphoru...
Objectives:
We investigated the impact of serum sex hormone-binding globulin (SHBG) on thrombin generation (TG) in women according to hormonal contraception.
Patients and methods:
A cross-sectional study of SHBG and TG measured via calibrated automated thrombography was conducted in 150 healthy women, including 75 users of combined oral contrace...
Context:
Measurement of IGF-I is essential for diagnosis and management of patientswith disorders affecting the somatotropic axis. However, even when IGF-I kit manufacturers follow recent consensus guidelines, different kits can give very different results for a given sample.
Objectives:
We sought to establish normative data for six IGF-I assay...
Study question:
What is the exact prevalence of Kisspeptin Receptor (KISS1R) mutations in the population of patients with normosmic congenital hypogonadotrophic hypogonadism (nCHH) by comparison with other genes, involved in gonadotrophin-releasing hormone (GnRH) release or action?
Summary answer:
KISS1R mutants are responsible for the nCHH phen...
Objective:
To determine PTH reference values in French healthy adults, taking into account serum 25OHD, renal function, age, gender, and BMI. Participants and main biological measurements: We studied 898 healthy subjects (432 women) aged 18-89 years with a normal BMI and eGFR, 81 patients with surgically proven primary hyperparathyroidism (PHPT),...
Context:
The effect of pegvisomant on IGF1 levels in patients with acromegaly is well documented, but little is known of its long-term impact on comorbidity.
Aim:
The aim of this retrospective study was to evaluate the effects of long-term pegvisomant therapy on cardiorespiratory and metabolic comorbidity in patients with acromegaly.
Patients a...
Contexte
Les estrogènes oraux induisent une hypercoagulabilité mais le lien entre l’estradiol plasmatique et l’hémostase est peu connu. De plus, le rôle des hormones sexuelles endogènes dans le développement de l’athérothrombose chez les femmes ménopausées est incertain.
Objectif
Étudier les interrelations entre hormones sexuelles endogènes, hémos...
L’acromégalie est associée à des comorbidités cardiovasculaires, respiratoires et métaboliques. L’effet du pegvisomant, un antagoniste du récepteur de la GH, sur la baisse de l’IGF-1 est bien documenté, contrairement à son effet sur les comorbidités. Le but de cette étude rétrospective monocentrique était d’évaluer l’effet à long terme du pegvisoma...
Le dosage d’IGF-1 est indispensable au diagnostic et au suivi des patients présentant une pathologie de la GH. Pourtant, son interprétation dépend de la technique de dosage utilisée.
Objectif
Comparer les résultats des dosages d’IGF-1 effectués avec 6 kits dans une cohorte de patients présentant une pathologie de la GH.
Patients et méthodes
L’étu...
Contexte
Les hypogonadismes hypogonadotrophiques (HH) avec syndrome cérébelleux (± dystrophie choriorétinienne) appelés aussi syndrome de Gordon-Holmes/Boucher-Neuhaüser (GH/BN) sont une cause exceptionnelle de déficit gonadotrope. La physiopathologie reste inconnue et leur base génétique commence seulement à être déchiffrée.
Objectif
Découvrir le...
Background:
The aim of this study was to facilitate the distinction between the benign "mini-puberty of early infancy" and precocious puberty (PP).
Material and methods:
We compared 59 patients (21 boys and 38 girls) seen for pubic hair development before one year of age diagnosed as mini-puberty to 13 patients (2 boys) in whom pubertal developm...
Context:
Both testicular and adrenal steroid secretions are impaired in men with panhypopituitarism (Hypo-Pit), whereas only testicular steroid secretion is impaired in men with isolated gonadotropin deficiency (IHH) caused by normosmic congenital hypogonadotropic hypogonadism or Kallmann syndrome.
Objective:
The objective of the study was to co...
Background:
Patients with Cushing's syndrome have left ventricular (LV) hypertrophy and dysfunction on echocardiography, but echo-based measurements may have limited accuracy in obese patients. No data are available on right ventricular (RV) and left atrial (LA) size and function in these patients.
Objectives:
The objective of the study was to e...
Mitotane (o,p'DDD) is the most effective treatment of advanced adrenocortical carcinoma (ACC) but its mechanism of action remains unknown. Previous studies suggested that o,p'DDA may represent the active metabolite of mitotane. We aimed at reevaluating the potential role and pharmacological effects of o,p'DDA. Functional consequences of o,p'DDA exp...
Background:
In older postmenopausal women, high levels of endogenous estrogen have been related to adverse health outcomes including ischemic arterial disease (IAD). Whether estrogen receptor-α (ESR1) and -β (ESR2) polymorphisms modulate the effects of estrogens on IAD has not been investigated.
Methods:
In the Three-City prospective cohort stud...
Men with Kallmann syndrome (KS) and those with congenital isolated hypogonadotropic hypogonadism with normal olfaction share a chronic, usually profound deficit, in FSH and LH, the two pituitary gonadotropins. Many studies indicate that this gonadotropin deficiency is already present during fetal life, thus explaining the micropenis, cryptorchidism...
Objectives: X-linked hypophosphatemic Rickets (XLHR) is characterized by phosphate wasting and decreased production of 1,25OH-vitamin D, due, in most patients, to elevated FGF23 and PHEX mutation. In children, the disease has been extensively studied because of the devastating presentation of rickets, teeth abcesses, and growth retardation. In adul...
È stato valutato se mutazioni del gene che codifica il GnRH1 possano essere responsabili di ipogonadismo ipogonadotropo idiopatico (IHH) nell’uomo. È stata identificata una mutazione omozigote di tipo frameshift [inserzione di una adenina in posizione 18 (c.18–19insA)] nella sequenza codificante la regione N-terminale del precursore del GnRH prepro...
We aimed to investigate the impact of endogenous estradiol (E2) on dementia and to evaluate the contribution of vascular risk factors and inflammatory and blood coagulation markers to this association.
Using data from a French population-based prospective study (the Three-City Study) including 5,644 postmenopausal women aged 65 years or older, we i...
Context:
Insulin-like factor 3 (INSL3) is a testicular hormone secreted during fetal life, the neonatal period, and after puberty.
Objective:
To measure INSL3 levels in a large series of men with congenital hypogonadotropic hypogonadism (CHH)/ Kallmann syndrome (KS), in order to assess its diagnostic value and to investigate its regulation.
Pat...
A soluble (pro)renin receptor (sPRR) circulates in plasma and is able to bind renin and prorenin. It is not known whether plasma sPRR concentrations vary with the activity of the renin-angiotensin system. We measured plasma sPRR, renin, prorenin, and aldosterone concentrations in 121 white and 9 black healthy subjects, 40 patients with diabetes mel...
The majority of the patients reported with mutations in isolated hypogonadotropic hypogonadism (HH) are adults. We analysed the presentation and the plasma inhibin B and anti-müllerian hormone (AMH) concentrations during childhood and adolescence, and compared them to the genetic results.
This was a retrospective, single-center study of 46 boys wit...
The objective of this study was to examine the association of plasma estradiol and testosterone with risk for dementia in elderly men.
Within the population based Three-City study, including 3650 men age 65 years and older, a case-cohort design was set up after 4-years of follow-up. Baseline plasma levels of total 17-β estradiol (Total-E2), total t...
Objectives
Low plasma testosterone is associated with increased mortality in men. However, the relation between testosterone and cardiovascular disease is uncertain. We assessed the association of plasma sex hormones with the incidence of ischemic arterial disease (IAD) in elderly men.Methods
We used data from the French Three-City prospective coho...
Context: Insulin-like peptide three (INSL3) is a testicular hormone, secreted by Leydig cells, during fetal life, in newborns, and after puberty. These 3 phases of testicular activation are impaired in CHH.
Objective: To evaluate in a single center circulating INSL3 in a significant series of men with CHH in order to asses the consequences of pre-...
Context: KISS1R mutations have been implicated in patients with normosmic congenital hypogonadotropic hypogonadism (nCHH) (OMIM #146110).
Objective: To describe in detail nCHH patients with biallelic KISS1R mutations belonging to two unrelated families, and to functionally characterize a novel KISS1R mutation.
Results: The p.Tyr313His original muta...
Objective:
DAX1/NR0B1 mutations cause primary adrenal insufficiency in early childhood and hypogonadotropic hypogonadism (HHG), leading to absent or incomplete sexual maturation. The aim of the study was to prospectively investigate gonadotrope and testicular functions in a patient carrying a DAX1 mutation, who had spontaneous puberty and normal v...
KISS1R mutations have been reported in few patients with normosmic congenital hypogonadotropic hypogonadism (nCHH) (OMIM #146110).
To describe in detail nCHH patients with biallelic KISS1R mutations belonging to 2 unrelated families, and to functionally characterize a novel KISS1R mutation.
An original mutant, p.Tyr313His, was found in the homozygo...
Despite evidence that estrogens may be involved in atherothrombosis, the role of endogenous sex steroid hormones in ischemic arterial disease among postmenopausal women remains uncertain.
In the Three-City prospective cohort study of subjects (n=9294) >65 years of age, we investigated the association of total 17β-estradiol, bioavailable 17β-estradi...
Background:
Plasma fibrinogen is a strong predictor of ischaemic arterial disease in women. Sex steroid hormones including hormone therapy may play an important role in the development of cardiovascular disease. However, whether endogenous sex steroid hormones influence the plasma fibrinogen concentrations among postmenopausal women remains unclea...
An inverse correlation between plasma testosterone levels and carotid intima-media thickness (IMT) has been reported in men. We investigated whether this association could be mediated or modified by traditional cardiovascular risk factors as well as inflammatory status.
In the Three-City population-based cohort study, 354 men aged 65 and over had a...
