Searchable abstracts of presentations at key conferences in endocrinology

ea0003s33 | Parturition and Fetal Stress - Hormonal Strategies for Ensuring Life After Birth | BES2002

The prolactin receptor and pregnancy

Binart N , Baran N , Bachelot A , Kelly P

Prolactin (PRL) exerts pleiotropic physiological effects in various cells and tissues, and is mainly considered as a regulator of reproduction and cell growth. Null mutation of the PRL receptor (R) gene leads to female sterility due to a complete failure of embryo implantation. Pre-implantatory egg development, implantation and decidualization in the mouse appear to be dependent on ovarian rather than uterine PRLR expression, since progesterone replacement permits the rescue o...

ea0029p943 | Female Reproduction | ICEECE2012

Long term health status of POI Patients

Bachelot A. , Gricourt S. , Coudert M. , Dulon J. , Touraine P.

Premature ovarian insufficiency (POI) is a disorder which affects approximately 1% of women under 40 years of age. Besides infertility and estrogen deficiency altering the quality of life, the impact of this disease on the long-term health status of these women, especially bone status, has received little attention. We therefore designed a cross-sectional study of patients with POI, 5–10 years after a first evaluation in our department. We evaluated their anthropometric, ...

ea0022oc5.5 | Reproduction & Thyroid | ECE2010

Predictive factors of intermittent ovarian function in patients with premature ovarian failure

Bidet Maud , Bissauge Estelle , Dulon Jerome , Bachelot Anne , Touraine Philippe

Objective: Premature ovarian failure (POF) is not an early menopause and intermittent ovarian function can be spontaneously observed in POF patients. We sought to characterize these patients and determine which factors were predictors of intermittent ovarian function.Patients and methods: Among 391 patients with idiopathic POF followed from 1997 in our department, 67 (17.1%) patients (Group 1) had POF fluctuating criteria: FSH <15 IU/l, resumed spont...

ea0011p156 | Clinical case reports | ECE2006

17beta-hydroxysteroid dehydrogenase deficiency caused by homozygous h271r mutation

Bachelot A , Chakhtoura Z , Kuttenn F , Morel Y , Touraine Ph

17β-hydroxysteroid dehydrogenase-3 (17βHSD3) deficiency is an autosomal recessive form of male pseudohermaphroditism due to impaired testicular conversion of androstenedione to testosterone. 46,XY homozygotes or compound heterozygotes for mutations of the HSD17B3 gene have testes and normally developed Wolffian duct derivatives, but they present with undervirilization of the external genitalia, which are often female. About twenty different mutations of the 17βH...

ea0029p898 | Female Reproduction | ICEECE2012

State of care in women affected by early premature ovarian failure (ePOF) within the first two years of treatment in a center for reproductive medicine and endocrinology (RME)

Benabbad I. , Bachelot A. , Bidet M. , Dulon J. , Thibaud E. , Polak M. , Touraine P.

Context: Early premature ovarian failure (ePOF) defined by cessation of ovarian function before age 18 is a rare condition. The link between puberty progression and POF hasn’t been explored in details.Aim of study: To describe pubertal development and clinical practices of women with ePOF in a referral center for RME within the first 2 years follow-up.Description method/design: A mixed retrospective and prospective study was p...

ea0029p925 | Female Reproduction | ICEECE2012

Variants of the NR5A1 gene in a large cohort of patients with primary ovarian insufficiency

Voican A. , Bachelot A. , Bouligand J. , Francou B. , Lombes M. , Touraine P. , Guiochon-Mantel A.

Premature ovarian insufficiency (POI) is a disorder which affects ~1% of women under 40 years of age. Genetic component has been suggested in the majority of cases of nonsyndromic forms, and recently mutations of NR5A1 have been reported to be associated with POI. In order to evaluate the frequency of NR5A1 mutations in POI together with the functional characterisation of the existing variants, we conducted a genetic study on a large cohort of POI patients.<p class=...

ea0020p645 | Reproduction | ECE2009

A monocentric study of 360 consecutive patients presenting with premature ovarian failure

Bachelot Anne , Rouxel Agnes , Massin Nathalie , Dulon Jerome , Courtillot Carine , Kuttenn Frederique , Touraine Philippe

Premature ovarian failure (POF) encompasses a heterogeneous spectrum of conditions, with phenotypic variability among patients. The etiology of POF remains unknown in most cases. This led us to set up a French network on POF for the purpose of better characterizing POF patients and understanding the mechanisms involved in this pathology. Over the last 10 years, we have evaluated 360 women who were referred to our center with a diagnosis of POF, and performed a study of clinica...

ea0014p654 | (1) | ECE2007

Adrenal morphology on CT-scan in patients with congenital adrenal hyperplasia

Bachelot Anne , Roffi Fabio , Rouxel Agnès , Eiss David , Touraine Philippe

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is one of the most common autosomal recessive diseases. Decreased production of cortisol leads to increased secretion of CRH and ACTH, resulting in overproduction of androgens and hyperplastic adrenals. 21-OH deficiency has thus been speculated to predispose for the formation of morphological adrenal abnormalities. However, studies are rare, the most relevant showing a high incidence of adrenal masses in 82%...

ea0073aep859 | Late Breaking | ECE2021

Infertility revealing a classical form of congenital adrenal hyperplasia in a 39 years old man

Alassane Ilboudo , Yempabou Sagnan , Mathilde Guigui , Sophie Dubreuil , Antonin Lamaziere , Bachelot Anne , Touraine Philippe , Carine Courtillot

Classical forms of congenital adrenal hyperplasia (CAH) are generally diagnosed in neonates (salt wasting form) or in early childhood (pure virilizing form). Here, we report the case of a 39 years old man from Sri Lanka in whom a classical CAH has been diagnosed during the exploration of infertility with azoospermia, along with extremely low gonadotropins contrasting with a normal level of testosterone. Hormonal tests revealed high serum 17-hydroxyprogesterone levels (255 ng/m...

ea0022oc4.5 | Adrenals | ECE2010

Effects of mitotane on testicular adrenal rest tumors size, sperm count and adrenal steroidogenesis in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Bachelot Anne , Salenave Sylvie , Renard Raphaelle , Rocher Laurence , Dulon Jerome , Coussieu Christiane , Brailly-Tabard Sylvie , Morel Yves , Touraine Philippe , Young Jacques

Testicular adrenal rest tumors (TART), described in patients with classic congenital adrenal hyperplasia (CAH) secondary to 21-hydroxylase deficiency, are responsible for Leydig cell failure and impaired spermatogenesis. These tumors, often unresponsive to intensified glucocorticoid therapy and surgical resection, may lead to infertility or even sterility. Here, we studied the effects of long term treatment with mitotane (Lysodren), a specific adrenolytic agent, on TART in 4 C...