Présentation initiale des pubertés précoces centrales idiopathiques (étude monocentrique de 493 filles)

Les problématiques autour de la puberté précoce sont multiples, de sa définitionclinique, biologique ou radiologique, à sa prise en charge et son retentissement. Notre objectif aété de caractériser la présentation initiale de ces patientes.Nous avons repris les données de 493 patientes suivies pour pubertéprécoce centrale idiopathique, de 1981 à 2012.Nous avons distingué 4 groupes selon les critères cliniques présents lors dela première consultation associés au développement mammaire, tels que l avance d âge osseuxsupérieure à 2 ans, la vitesse de croissance supérieure à 2 déviations standards (DS) et la présenced une pilosité. Le groupe 0 rassemblait les filles présentant un développement mammaire isolé(n=99), le groupe 1, celles ayant un critère associé (n=187), le groupe 2, celles en ayant deux(n=142) et le groupe 3 celles ayant tous les critères (n=65). Le délai de consultation, l indicede masse corporelle, les concentrations d hormone lutéinisante (LH), le rapport des pics deLH/l hormone folliculo-stimulante (FSH) après test de stimulation à la gonadolibérine (GnRH),es taux d oestradiol et la longueur utérine étaient significativement plus élevés dans les groupes2 et 3 que dans les groupes 0 et 1. L obésité a une prévalence importante dans notre cohorte(27,6%). Cependant, ces filles obèses n ont pas des profils biologiques ou radiologiques différentsdes autres patientes.Nous n avons pas retrouvé de variation de la prévalence des pubertés précocespendant notre période d observation. Les filles obèses présentent plus souvent une pubertéprécoce, souvent associée à une maturation précoce des surrénales.PARIS6-Bibl.Pitié-Salpêtrie (751132101) / SudocSudocFranceF

Models for predicting the adult height and age at first menstruation of girls with idiopathic central precocious puberty.

BACKGROUND:It is difficult to determine whether to treat a given girl who has idiopathic central precocious puberty (CPP) with gonadotropin-releasing hormone analog (GnRHa) in terms of adult height (AH). The objective was to provide an easy tool for predicting AH and age at first menstruation at initial evaluation to help guide the decision regarding whether to treat. METHODS:Data analysis using multiple linear regression models was performed in 134 girls with CPP. Among them 78 were given GnRHa because of low predicted AH (n=45), pubertal luteinising hormone (LH)/follicle-stimulating hormone peaks (FSH) ratio (n=50) and/or high plasma estradiol concentration (n=45). 56 girls were followed without treatment. RESULTS:In the whole population, the actual AH (162.1±5.61 cm) was similar to target height (161.7±4.91 cm) and to AH predicted by the Bayley and Pinneau method (161.9±7.98 cm). Separated models for treated and untreated girls provide very close estimations, leading to a unique formula for both groups. The AH (cm) could be calculated at the initial evaluation: 2.21 (height at initial evaluation, SD) + 2.32 (target height, SD) - 1.83 (LH/FSH peaks ratio) + 159.68. The actual AH was lower than the calculated AH by more than 1 SD (5.6 cm) in 11 girls (8.0%). The time between onset of puberty and first menstruation (in untreated girls) can be estimated with: 10.9 - 0.57 (LH/FSH peaks ratio). The formulae are available at http://www.kamick.org/lemaire/med/girls-cpp15.html. CONCLUSIONS:We established formulae that can be used at an initial evaluation to predict the AH, and the time between onset of puberty and first menstruation after spontaneous puberty. The similarity of the formulae for both groups suggests that the treatment had no significant effect on the AH. However, the criteria used to select treatment suggest that it prevents the deterioration of AH in cases with rapidly evolving form of CPP

Perinatal features of children with Silver-Russell syndrome due to 11p15 loss of methylation

International audienc

Flow chart of the inclusions of girls with CPP.

<p>Flow chart of the inclusions of girls with CPP.</p

Interval time (years) between the onset of puberty and first menstruation in 56 girls with untreated idiopathic CPP using the formula from http://www.kamick.org/lemaire/med/girls-cpp15.html.

<p>Plain line represents the reference perfect prediction (calculated = actual), and dotted lines represent ± year from that value.</p

Characteristics of the 8 girls with adult height ≤152 cm (- 2 SD) after idiopathic CPP.

<p>Characteristics of the 8 girls with adult height ≤152 cm (- 2 SD) after idiopathic CPP.</p

Correlation between actual adult height and calculated adult height (left) or adult height predicted by the Bayley Pinneau method [25] (right) in 78 treated (empty circles) and 56 untreated girls (plain circles) with idiopathic CPP using the formula from http://www.kamick.org/lemaire/med/girls-cpp15.html.

<p>Plain line represents the reference perfect prediction (calculated = actual), and dotted lines represent ± 1 SD from that value.</p

Comparison of the characteristics of included and excluded patients.

<p>MWUt: Mann-Whitney U-test</p><p>Comparison of the characteristics of included and excluded patients.</p

IGF2: Development, Genetic and Epigenetic Abnormalities

International audienceIn the 30 years since the first report of parental imprinting in insulin-like growth factor 2 (Igf2) knockout mouse models, we have learnt much about the structure of this protein, its role and regulation. Indeed, many animal and human studies involving innovative techniques have shed light on the complex regulation of IGF2 expression. The physiological roles of IGF-II have also been documented, revealing pleiotropic tissue-specific and developmental-stage-dependent action. Furthermore, in recent years, animal studies have highlighted important interspecies differences in IGF-II function, gene expression and regulation. The identification of human disorders due to impaired IGF2 gene expression has also helped to elucidate the major role of IGF-II in growth and in tumor proliferation. The Silver–Russell and Beckwith–Wiedemann syndromes are the most representative imprinted disorders, as they constitute both phenotypic and molecular mirrors of IGF2-linked abnormalities. The characterization of patients with either epigenetic or genetic defects altering IGF2 expression has confirmed the central role of IGF-II in human growth regulation, particularly before birth, and its effects on broader body functions, such as metabolism or tumor susceptibility. Given the long-term health impact of these rare disorders, it is important to understand the consequences of IGF2 defects in these patient

Datasheet1_Perinatal features of children with Silver-Russell syndrome due to 11p15 loss of methylation.docx

BackgroundA diagnosis of Silver–Russell syndrome (SRS), a rare imprinting disorder responsible for foetal growth restriction, is considered for patients presenting at least four criteria of the Netchine-Harbison clinical scoring system (NH-CSS). Certain items of the NH-CSS are not assessable until the age of 2 years. The objective was to determine perinatal characteristics of children with SRS to allow an early diagnosis.MethodsWe retrospectively compared the perinatal characteristics of children with SRS (n = 17) with those of newborns small for gestational age (SGA) due to placental insufficiency (PI) (n = 21).ResultsChildren with SRS showed earlier and more severely altered foetal biometry than SGA newborns due to PI. Twenty-three percent of patients with SRS showed uterine artery Doppler anomalies. SRS children were significantly smaller at birth (birth length ConclusionThe diagnosis of SRS must be evoked in the neonatal period for SGA newborns with a growth delay present from the second trimester of pregnancy, a birth length <-3 SDS and a relative macrocephaly. Doppler anomalies, classically used to orient the cause of SGA towards PI, did not rule out the diagnosis of SRS.</p