Search Results - "Audran, F."

High prevalence of micropenis in 2710 male newborns from an intensive-use pesticide area of Northeastern Brazil by Gaspari, L., Sampaio, D. R., Paris, F., Audran, F., Orsini, M., Neto, J. B., Sultan, C.

“…Summary Exposure to endocrine‐disrupting chemicals (EDCs) has been suggested to contribute to the increasing trends of external genital malformation in male…”
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Endocrine and molecular investigations in a cohort of 25 adolescent males with prominent/persistent pubertal gynecomastia by Paris, F., Gaspari, L., Mbou, F., Philibert, P., Audran, F., Morel, Y., Biason‐Lauber, A., Sultan, C.

“…Summary Pubertal gynecomastia is a common condition observed in up to 65% of adolescent males. It is usually idiopathic and tends to regress within 1–2 years…”
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Polymorphisms of MAMLD1 gene in hypospadias by Kalfa, N, Cassorla, F, Audran, F, Oulad Abdennabi, I, Philibert, P, Béroud, C, Guys, J.M, Reynaud, R, Alessandrini, P, Wagner, K, Bréaud, J, Valla, J.S, Morisson Lacombe, G, Daures, J.P, Baskin, L, Fukami, M, Ogata, T, Sultan, C

“…Abstract Purpose Mastermind-like domain containing 1 (MAMLD1) is a causative gene for the fetal development of male external genitalia. Almost 10% of patients…”
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1590 Inguinal Hernia in “Girls” Rarely Reveals Complete Androgen Insensitivity Syndrome by Kalfa, N, Paris, F, Andreica, A, Audran, F, Maillet, O, Philibert, P, Galifer, RB, Sultan, C

“…Background Aim According to literature, the incidence of complete androgen insensitivity syndrome (CAIS) revealed by inguinal hernia in “girls” is variable due…”
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Searching for somatic mutations in McCune–Albright syndrome: a comparative study of the peptidic nucleic acid versus the nested PCR method based on 148 DNA samples by Kalfa, N, Philibert, P, Audran, F, Ecochard, A, Hannon, T, Lumbroso, S, Sultan, C

“…Background: Activating mutations of the Gsα gene (GNAS), which encodes for the α-subunit of the stimulatory G protein, have been identified in patients with…”
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1586 Minor Hypospadias: The “Tip of the Iceberg” of the Partial Androgen Insensitivity Syndrome by Kalfa, N, Philibert, P, Audran, F, Bashamboo, A, Lehors, H, Haddad, M, Guys, JM, Reynaud, R, Alessandrini, P, Wagner, K, Kurzenne, JY, Bastiani, F, Bréaud, J, Valla, J, Lacombe, GM, Orsini, M, Daures, JP, Paris, F, McElreavey, K, Sultan, C

“…Background and Aims Alterations in the androgen sensitivity pathway have been identified in severely undermasculinized boys, and mutations of the…”
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Undervirilization in XY newborns may hide a 5α‐reductase deficiency: report of three new SRD5A2 gene mutations by Maimoun, L, Philibert, P, Cammas, B, Audran, F, Pienkowski, C, Kurtz, F, Heinrich, C, Cartigny, M, Sultan, C

“…The observation of ambiguous genitalia in the newborn signals a medical, surgical and psychological emergency. The most crucial decision will be the choice of…”
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Isolated 'idiopathic' micropenis: hidden genetic defects? by Paris, F., De Ferran, K., Bhangoo, A., Ten, S., Lahlou, N., Audran, F., Servant, N., Poulat, F., Philibert, P., Sultan, C.

“…Summary Micropenis is defined as a stretched penile length of less than 2–2.5SD for age. Aetiologies include hypogonadotropic hypogonadism, testicular…”
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Phenotype, hormonal profile and genotype of subjects with partial androgen insensitivity syndrome: report of a family with four adult males and one child with disorder of sexual differentiation by Kulshreshtha, B., Philibert, P., Eunice, M., Audran, F., Paris, F., Khurana, M. L., Ammini, A. C., Charles, S.

“…Summary There is little information on the molecular basis of intrafamilial and inter‐familial phenotypic heterogeneity with the same androgen receptor (AR)…”
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Disorders of androgen action by Sultan, Charles, Lumbroso, Serge, Paris, Françoise, Jeandel, Claire, Terouanne, B, Belon, Charles, Audran, F, Poujol, N, Georget, V, Gobinet, J, Jalaguier, S, Auzou, G, Nicolas, J C

“…Disorders of androgen action are the main cause of male pseudohermaphroditism and include 5alphaR deficiency and androgen receptor defects. 5alphaR deficiency…”
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A new mutation of the androgen receptor, P817A, causing partial androgen insensitivity syndrome: in vitro and structural analysis by Lumbroso, S, Wagschal, A, Bourguet, W, Georget, V, Mazen, I, Servant, N, Audran, F, Sultan, C, Auzou, G

“…Androgen insensitivity syndrome (AIS) is an X-linked disease caused by mutations in the androgen receptor (AR) resulting in various degrees of defective…”
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Mutational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia: a French collaborative study by Philibert, Pascal, Zenaty, Delphine, Lin, Lin, Soskin, Sylvie, Audran, Françoise, Léger, Juliane, Achermann, John C., Sultan, Charles

“…BACKGROUND Steroidogenic factor 1 (SF1/AdBP4/FTZF1, NR5A1) is a nuclear receptor transcription factor that plays a key role in regulating adrenal and gonadal…”
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Androgen Insensitivity Syndrome: Somatic Mosaicism of the Androgen Receptor in Seven Families and Consequences for Sex Assignment and Genetic Counseling by Köhler, Birgit, Lumbroso, Serge, Leger, Juliane, Audran, Francoise, Grau, Enric Sarret, Kurtz, Francois, Pinto, Graziella, Salerno, Mariacarolina, Semitcheva, Tatiana, Czernichow, Paul, Sultan, Charles

“…Androgen insensitivity syndrome (AIS) is caused by numerous mutations of the androgen receptor (AR) gene. The phenotype may range from partial AIS (PAIS) with…”
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Activating Mutations of the Stimulatory G Protein in Juvenile Ovarian Granulosa Cell Tumors: A New Prognostic Factor? by Kalfa, Nicolas, Ecochard, Aude, Patte, Catherine, Duvillard, Pierre, Audran, Francoise, Pienkowski, Catherine, Thibaud, Elisabeth, Brauner, Raja, Lecointre, Claudine, Plantaz, Dominique, Guedj, Anne-Marie, Paris, Francoise, Baldet, Pierre, Lumbroso, Serge, Sultan, Charles

“…Context: Conflicting data have been reported regarding the presence of a constitutive activation of Gαs in ovarian granulosa cell tumors (OGCTs). Although the…”
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Free and total plasma testosterone in men and women with acne by Sultan, C, Oliel, V, Audran, F, Meynadier, J

“…Androgens are important in the pathogenesis of acne, and free testosterone in the serum is regarded as the biologically active component. In this study, serum…”
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High prevalence of micropenis in 2710 male newborns from an intensive-use pesticide area of Northeastern Brazil: Impact of Endocrine Disrupters on Reproductive Health: Proceedings of the 6th Copenhagen Workshop on Endocrine Disrupters, 26-29 April 2011 by GASPARI, L, SAMPAIO, D. R, PARIS, F, AUDRAN, F, ORSINI, M, NETO, J. B, SULTAN, C

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An N-terminal WT1 mutation (P181S) in an XY patient with ambiguous genitalia, normal testosterone production, absence of kidney disease and associated heart defect: enlarging the phenotypic spectrum of WT1 defects by Kohler, B, Pienkowski, C, Audran, F, Delsol, M, Tauber, M, Paris, F, Sultan, C, Lumbroso, S

“…OBJECTIVE: This study reports the clinical and molecular data of an XY patient with a very unusual phenotype due to a Wilms' tumor-suppressor (WT1) gene…”
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Mother-to-son transmission of a luteinizing hormone receptor activating mutation in a prepubertal child with testotoxicosis by Eunice, Marumudi, Philibert, Pascal, Kulshreshtha, Bindu, Audran, Françoise, Paris, Françoise, Sultan, Charles, Ammini, Ariachery C

“…To identify the LHR gene mutation in a prepubertal child with testotoxicosis. Standard RIA procedure was used for estimating LH, FSH and testosterone levels…”
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Isolated ‘idiopathic’ micropenis: hidden genetic defects?: Isolated ‘idiopathic’ micropenis by Paris, F., De Ferran, K., Bhangoo, A., Ten, S., Lahlou, N., Audran, F., Servant, N., Poulat, F., Philibert, P., Sultan, C.

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Aménorrhées XY de l’adolescente by Sultan, C., Philibert, P., Maimoun, L., Kalfa, N., Audran, F., Servant, N., Gaspari, L., Paris, F.

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