hrp0084p1-133 | Turner & Puberty | ESPE2015

Improved Determination of Total Serum Estrogenic Bioactivity: Characterisation of Oestrogenic Activity Modulators

Francoise Paris , Marina Grimaldi , Charles Sultan , Patrick Balaguer

Background: Several years ago, we developed a recombinant cell bioassay to determine serum estrogenic bioactivity (EBA). In addition to its physiological interest, EBA could be a good marker of endocrine-disrupting compounds (EDCs) with estrogenic activity and thus would be useful in the field of environmental-related endocrine diseases.Aims and objectives: To characterise the type of substances that mediate estrogenic activity.Met...

hrp0084p2-434 | Gonads | ESPE2015

Confirmation of Exogenous Serum Estrogenic Activity in a Girl with Premature Thelarche

Francoise Paris , Marina Grimaldi , Charles Sultan , Patrick Balaguer

Background: The oestrogenic activity of endocrine-disrupting compounds (EDCs) has been reported to be associated with premature thelarche (PT) and precocious puberty. Some years ago, we developed a recombinant cell bioassay to determine serum estrogenic bioactivity (EBA) that is useful in physiology, as well as in the field of the environmental-related endocrine diseases. We recently improved the assay with an evaluation of EBA before and after incubation with estrogen recepto...

hrp0086p1-p360 | Gonads & DSD P1 | ESPE2016

A Novel Familial Androgen Receptor Mutation (W752G) in Complete Androgen Insensitivity Syndrome: Use of in vitro Study According to the Nature of Amino Acid Substitution

Paris Francoise , Gaspari Laura , Boulahtouf Abdel , Kalfa Nicolas , Sultan Charles , Balaguer Patrick

Background: Androgen receptor (AR) gene mutations are the most frequent cause of 46,XY disorders of sex development and are associated with a variety of phenotypes, ranging from phenotypic women (complete androgen insensitivity syndrome) to milder degrees of undervirilization (partial and mild forms).Aims and objectives: To specify how a phenotype-genotype correlation can be refined by in vitro study based on the nature of amino acid substitutio...

hrp0082p1-d2-218 | Reproduction (1) | ESPE2014

High Incidence of Genetic Defects in a Cohort of 24 Male Adolescents with Persistent Pubertal Gynecomastia

Paris Francoise , Gaspari Laura , MBou Felicien , Philibert Pascal , Lauber-Biason Anna , Sultan Charles

Background: Pubertal gynecomastia is a common condition appearing in up to 65% of adolescent boys. However, if male breast development is over B3–B4 and lasts more than 2–3 years, persistent pubertal gynecomastia (PPG) may be the sign of serious endocrine disease and the source of considerable psychological discomfort.Objective and hypotheses: We investigated a cohort of 24 adolescents with PPG followed at the Pediatric Endocrinogy Unit over a ...

hrp0082p2-d1-539 | Puberty and Neuroendocrinology | ESPE2014

Dramatic Rise in the Prevalence of Precocious Puberty in Girls Over the Past 20 Years in the South of France

Gaspari Laura , Morcrette Emilie , Jeandel Claire , Vale Fabienne Dalla , Paris Francoise , Sultan Charles

Background: Epidemiological evidence in Europe indicates the increasing prevalence of premature puberty, especially in girls. This may be attributed to in utero and early-life exposure to environmental estrogen-like compounds present in pesticides, plastics (bisphenol A, phtalates …) and beauty products.Objective and hypotheses: The aim of this study was to assess the prevalence of premature thelarche (PT) and central precocious puberty (C...

hrp0084p2-314 | DSD | ESPE2015

Pubertal Virilization in Two Unrelated XY Teenagers with Female Phenotype due to NR5A1/SF-1 Gene Mutation

Philibert Pascal , Fenichel Patrick , Dewailly Didier , Audran Francoise , Fauconnet-Servant Nadege , Paris Francoise , Sultan Charles

Background: Pubertal virilization in a 46,XY DSD patient is generally due to partial androgen insensitivity, 5-alpha-reductase deficiency, or 17-ketoreductase deficiency. Recently, reports have identified virilization signs associated with NR5A1/SF-1 gene mutations.Cases presentation and method: We present two unrelated cases of pubertal virilization due to NR5A1/SF-1 gene mutation. Both were suspected to be primarily affected by 5-alph...

hrp0084p2-316 | DSD | ESPE2015

Partial Androgen Insensitivity: Syndrome or Symptoms?

Charles Sultan , Pascal Philibert , Nicolas Kalfa , Laurent Maimoun , Francoise Audran , Nadege Servant , Laura Gaspari , Francoise Paris

Background: Partial androgen insensitivity syndrome (PAIS) covers a large spectrum of phenotypes, with the common denominator being insufficient virilisation of the external genitalia in an XY child with normal testosterone (T) production. Genetic diagnosis of PAIS is based on the identification of an androgen receptor (AR) gene mutation.Aim: The aim of this work was to determine whether the PAIS-like phenotype is associated with other gene mutations.</p...

hrp0084p2-321 | DSD | ESPE2015

Familial Mutation of NR5A1/SF-1 Gene Associated with DSD and Spleen Agenesis: A New Syndrome?

Philibert Pascal , Poulat Francis , Audran Francoise , Cartigny Maryse , Paris Francoise , Sultan Charles , Manouvrier-Hanu Sylvie

Background: A recent report (JCI, 2014) described a new homozygous NR5A1/SF-1 mutation in a patient with XY DSD and spleen agenesis. To date, no other data have confirmed this association, raising the hypothesis of fortuity.Case presentation and method: We had the opportunity to study an adolescent girl referred for virilisation during puberty. She presented voice deepening and clitoral hypertrophy. Biological investigations showed high plasma testostero...

hrp0084p2-326 | DSD | ESPE2015

Prevalence of Partial Androgen Insensitivity Syndrome in 3 Cohorts of 46,XY Children Presenting with Isolated Hypospadias, Isolated Micropenis or Isolated Persistent Pubertal Gynecomastia

Francoise Paris , Pascal Philibert , Laura Gaspari , Francoise Audran , Nicolas Kalfa , Charles Sultan

Background: The clinical diagnosis of partial androgen insensitivity syndrome (PAIS) should be systematically considered for all 46,XY newborns/infants with undervirilisation contrasting with normal/elevated plasma testosterone levels. Confirmation of PAIS is based on the identification of an androgen receptor (AR) gene mutation.Aim: This work was undertaken to determine whether the minor forms of undervirilisation such as isolated hypospadias, isolated ...

hrp0084p3-786 | DSD | ESPE2015

Isolated Persistent Pubertal Gynecomastia in Three Adolescent Males as the Only Phenotypic Expression of PAIS with Androgen Receptor Gene Mutations

Philibert Pascal , M'Bou Felicien , Audran Francoise , Gaspari Laura , Paris Francoise , Sultan Charles

Background: Pubertal gynecomastia is observed in up to 65% of adolescent males. It is usually idiopathic and tends to regress within 1–2 years, although sometimes pubertal gynecomastia persists.Case presentation and methods: We investigated three adolescent males with isolated persistent pubertal gynecomastia: twin brothers and an unrelated adolescent boy. The twins (17 years) had normal male external genitalia. Biological testing showed normal test...