– High Diagnostic Yield of Targeted Next-Generation Sequencing in a Cohort of Patients With Congenital Hypothyroidism Due to Dyshormonogenesis.
Athanasia Stoupa, Ghada Al Hage Chehade, Rim Chaabane, Dulanjalee Kariyawasam, Gabor Szinnai, Sylvain Hanein, Christine Bole-Feysot, Cécile Fourrage, Patrick Nitschke, Caroline Thalassinos, Graziella Pinto, Mouna Mnif, Sabine Baron, Marc De Kerdanet, Rachel Reynaud, Pascal Barat, Mongia Hachicha, Neila Belguith, Michel Polak, Aurore Carré
Front Endocrinol (Lausanne), 2021 Feb 22, PMID: 33692749 PMCID: PMC7937947 DOI: 10.3389/fendo.2020.545339

– [Newborn screening for congenital adrenal hyperplasia in France].
Dulanjalee Kariyawasam, Thao Nguyen-Khoa, Laura Gonzalez Briceño, Michel Polak
Med Sci (Paris), 2021 May, PMID: 34003096 DOI: 10.1051/medsci/2021060

– Congenital Hypothyroidism: A 2020-2021 Consensus Guidelines Update-An ENDO-European Reference Network Initiative Endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology.
Paul van Trotsenburg, Athanasia Stoupa, Juliane Léger, Tilman Rohrer, Catherine Peters, Laura Fugazzola, Alessandra Cassio, Claudine Heinrichs, Veronique Beauloye, Joachim Pohlenz, Patrice Rodien, Regis Coutant, Gabor Szinnai, Philip Murray, Beate Bartés, Dominique Luton, Mariacarolina Salerno, Luisa de Sanctis, Mariacristina Vigone, Heiko Krude, Luca Persani, Michel Polak
Thyroid, 2021 Mar, PMID: 33272083 PMCID: PMC8001676 DOI: 10.1089/thy.2020.0333

– Double-face preputial island flap revisited: is it a reliable one-stage repair for severe hypospadias?
Thomas Blanc, Matthieu Peycelon, Mohammed Siddiqui, Cecile Muller, Annabel Paye-Jaouen, Alaa El-Ghoneimi
World J Urol, 2021 May, PMID: 32601982 DOI: 10.1007/s00345-020-03324-7

– Effectiveness and safety of rhIGF1 therapy in patients with or without Laron syndrome.
Peter Bang, Joachim Woelfle, Valerie Perrot, Caroline Sert, Michel Polak
Eur J Endocrinol, 2021 Feb, PMID: 33434161 PMCID: PMC7849377 DOI: 10.1530/EJE-20-0325

– New genetics in congenital hypothyroidism.
Athanasia Stoupa, Dulanjalee Kariyawasam, Marina Muzza, Tiziana de Filippis, Laura Fugazzola, Michel Polak, Luca Persani, Aurore Carré
Endocrine, 2021 Mar, PMID: 33650047 DOI: 10.1007/s12020-021-02646-9

– Age at diagnosis in patients with chronic congenital endocrine conditions: a regional cohort study from a reference center for rare diseases.
Wafa Kallali, Claude Messiaen, Roumaisah Saïdi, Soucounda Lessim, Magali Viaud, Jerome Dulon, Mariana Nedelcu, Dinane Samara, Muriel Houang, Bruno Donadille, Carine Courtillot, GianPaolo de Filippo, Jean-Claude Carel, Sophie Christin-Maitre, Philippe Touraine, Irene Netchine, Michel Polak, Juliane Léger
Orphanet J Rare Dis, 2021 Nov 4, PMID: 34736502 PMCID: PMC8567586 DOI: 10.1186/s13023-021-02099-3

– Long-Term Safety of Growth Hormone Treatment in Childhood: Two Large Observational Studies: NordiNet IOS and ANSWER.
Lars Sävendahl, Michel Polak, Philippe Backeljauw, Joanne C Blair, Bradley S Miller, Tilman R Rohrer, Anita Hokken-Koelega, Alberto Pietropoli, Nicky Kelepouris, Judith Ross
J Clin Endocrinol Metab, 2021 May 13, PMID: 33571362 PMCID: PMC8118578 DOI: 10.1210/clinem/dgab080

– One hundred twelve cases of 46, XY DSD patients after initial gender assignment: a short-term survey of gender role and gender dysphoria.
Liping Hou, Ming Zhao, Lijun Fan, Bingyan Cao, Jiajia Chen, Yonghua Cui, Michel Polak, Chunxiu Gong
Orphanet J Rare Dis, 2021 Oct 9, PMID: 34627348 PMCID: PMC8501610 DOI: 10.1186/s13023-021-02039-1

– Position statement on the diagnosis and management of premature/primary ovarian insufficiency (except Turner Syndrome).
Sophie Christin-Maitre, Maria Givony, Frédérique Albarel, Anne Bachelot, Maud Bidet, Jean Victor Blanc, Claire Bouvattier, Aude Brac de la Perrière, Sophie Catteau-Jonard, Nicolas Chevalier et al.
Ann Endocrinol (Paris), 2021 Dec, PMID: 34508691 DOI: 10.1016/j.ando.2021.09.001

– SRY-negative 46,XX testicular/ovotesticular DSD: Long-term outcomes and early blockade of gonadotropic axis.
Sophie Lambert, Matthieu Peycelon, Dinane Samara-Boustani, Capucine Hyon, Laurence Dumeige, Michel Peuchmaur, Elodie Fiot, Juliane Léger, Dominique Simon
Clin Endocrinol (Oxf), 2021 Apr, PMID: 33296530 DOI: 10.1111/cen.14389

– Transition of young adults with endocrine and metabolic diseases: the  »TRANSEND » cohort.
Enora Le Roux, Florence Menesguen, Isabelle Tejedor, Marc Popelier, Marine Halbron, Pauline Faucher, Sabine Malivoir, Graziella Pinto, Juliane Léger, Stephane Hatem, Michel Polak, Christine Poitou, Philippe Touraine
Endocr Connect, 2021 Jan, PMID: 33263561 PMCID: PMC7923139 DOI: 10.1530/EC-20-0520

– Lopinavir-Ritonavir Impairs Adrenal Function in Infants.
Dulanjalee Kariyawasam, Marianne Peries, Frantz Foissac, Sabrina Eymard-Duvernay, Thorkild Tylleskär, Mandisa Singata-Madliki, Chipepo Kankasa, Nicolas Meda, James Tumwine, Mwiya Mwiya, Ingunn Engebretsen, Christa E Flück, Michaela F Hartmann, Stefan A Wudy, Deborah Hirt, Jean Marc Treluyer, Jean-Pierre Molès, Stéphane Blanche, Philippe Van De Perre, Michel Polak, Nicolas Nagot, ANRS 12174 Trial Group
Clin Infect Dis, 2020 Aug 14, PMID: 31633158 DOI: 10.1093/cid/ciz888

– First case of fetal goitrous hypothyroidism due to SLC5A5/NIS mutations.
Athanasia Stoupa, Ghada Al Hage Chehade, Dulanjalee Kariyawasam, Celine Tohier, Christine Bole-Feysot, Patrick Nitschke, Helene Thibault, Marie-Laure Jullie, Michel Polak, Aurore Carré
Eur J Endocrinol, 2020 Nov, PMID: 32805706 DOI: 10.1530/EJE-20-0255

– Clinical characteristics and genotype-phenotype correlations of 130 Chinese children in a high-homogeneity single-center cohort with 5α-reductase 2 deficiency.
Lijun Fan, Yanning Song, Michel Polak, Lele Li, Xiaoya Ren, Beibei Zhang, Di Wu, Chunxiu Gong
Mol Genet Genomic Med, 2020 Oct, PMID: 32713132 PMCID: PMC7549558 DOI: 10.1002/mgg3.1431

– Ex vivo model for elucidating the functional and structural differentiation of the embryonic mouse thyroid.
Aurore Carré, Sanjay Gawade, Simone Dertschnig, Kathrin Hafen, Michel Polak, Gabor Szinnai
Mol Cell Endocrinol, 2020 Jun 15, PMID: 32360566 DOI: 10.1016/j.mce.2020.110834

– Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN).
Thomas Eggermann, Miriam Elbracht, Ingo Kurth, Anders Juul, Trine Holm Johannsen, Irène Netchine, George Mastorakos, Gudmundur Johannsson, Thomas J Musholt, Martin Zenker, Dirk Prawitt, Alberto M Pereira, Olaf Hiort, European Reference Network on Rare Endocrine Conditions (ENDO-ERN)
Orphanet J Rare Dis, 2020 Jun 8, PMID: 32513286 PMCID: PMC7278165 DOI: 10.1186/s13023-020-01420-w

– Thyroid hormone and folinic acid in young children with Down syndrome: the phase 3 ACTHYF trial.
Clotilde Mircher MD, Silvia Sacco PhD, Charles Bouis MSc, Jennifer Gallard MSc, Aude Pichot MSc, Eric Le Galloudec MD, Cécile Cieuta MD, Isabelle Marey MD, Oliver Greiner-Mahler MD, Nathalie Dorison MD, Alicia Gambarini LPN, Samantha Stora MSc, Sophie Durand PharmD, Michel Polak PhD, André Baruchel PhD, Emilie Schlumberger PhD, Jean Dewailly MD, Ahlam Azar-Kolakez MD, Rosa-Maria Guéant-Rodriguez PhD, Jean-Louis Guéant PhD, Didier Borderie PhD, Dominique Bonnefont-Rousselot PhD, Elodie Blondiaux MSc, Aimé Ravel MD & Franck G. Sturtz PhD
Genet Med, 2020 Jan, PMID: 31281181 DOI: 10.1038/s41436-019-0597-8

– Link between steroidogenesis, the cell cycle, and PKA in adrenocortical tumor cells.
Marthe Rizk-Rabin, Sabrina Chaoui-Ibadioune, Anna Vaczlavik, Christopher Ribes, Michel Polak, Bruno Ragazzon, Jerôme Bertherat
Mol Cell Endocrinol, 2020 Jan 15, PMID: 31678420 DOI: 10.1016/j.mce.2019.110636

– Beta-Catenin Causes Adrenal Hyperplasia by Blocking Zonal Transdifferentiation.
Emanuele Pignatti, Sining Len, Yixing Yuchi, Kleiton S Borges, Nick A Guagliardo, Manasvi S Shah, Gerard Ruiz-Babot, Dulanjalee Kariyawasam, Makoto Mark Taketo, Ji Miao, Paula Q Barrett, Diana L Carlone, David T Breault
Cell Rep, 2020 Apr 21, PMID: 32320669 PMCID: PMC7281829 DOI: 10.1016/j.celrep.2020.107524

– Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study.
Groeneweg, Stefan; van Geest, Ferdy S; et al; Enderli, Anina; Hackenberg, Annette; Konrad, Daniel; Heinrich, Bianka
Lancet Diabetes Endocrinol, 2020 Jul, PMID: 32559475 DOI: 10.1016/S2213-8587(20)30153-4

– DYRK1A BAC transgenic mouse: a new model of thyroid dysgenesis in Down syndrome.
Kariyawasam D1, Rachdi L, Carré A, Martin M, Houlier M, Janel N, Delabar JM, Scharfmann R, Polak M.
Endocrinology. 2015 Mar;156(3):1171-80.

– Inadequate cortisol response to the tetracosactide (Synacthen®) test in non-classic congenital adrenal hyperplasia: an exception to the rule?
Stoupa A, González-Briceño L, Pinto G, Samara-Boustani D, Thalassinos C, Flechtner I, Beltrand J, Bidet M, Simon A, Piketty M, Laborde K, Morel Y, Bellanné-Chantelot C, Touraine P, Polak M;
Horm Res Paediatr. 2015;83(4):262-7

– Down syndrome and nonautoimmune hypothyroidisms in neonates and infants.
Kariyawasam D, Carré A, Luton D, Polak M.
Horm Res Paediatr. 2015;83(2):126-31

– Natural history and management of congenital hypothyroidism with in situ thyroid gland.
Castanet M, Goischke A, Léger J, Thalassinos C, Rodrigue D, Cabrol S, Zenaty D, al-Harbi M, Polak M, Czernichow P; Fédération Parisienne pour le Dépistage et la Prévention des Handicaps de l’Enfant (FDPHE);
Horm Res Paediatr. 2015;83(2):102-10

– Characterization of a novel CYP19A1 (aromatase) R192H mutation causing virilization of a 46,XX newborn, undervirilization of the 46,XY brother, but no virilization of the mother during pregnancies.
Bouchoucha N, Samara-Boustani D, Pandey AV, Bony-Trifunovic H, Hofer G, Aigrain Y, Polak M, Flück CE.
Mol Cell Endocrinol. 2014 Jun 5;390(1-2):8-17.