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3. Gonadotropic status in adult women with pituitary stalk interruption syndrome

Author

Terray, A, primary, Baussart, B, additional, Zins, M, additional, Goldberg, M, additional, Kab, S, additional, Cazabat, L, additional, Briere, M, additional, Brue, T, additional, Barraud, S, additional, Reznik, Y, additional, Christin Maitre, S, additional, Illouz, F, additional, Raverot, G, additional, Young, J, additional, Raffin-Sanson, M L, additional, and Hage, M, additional

Published
2024
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4. Dunnigan lipodystrophy syndrome: French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins)

Author

Mosbah, H., Donadille, B., Vatier, C., Janmaat, S., Atlan, M., Badens, C., Barat, P., Béliard, S., Beltrand, J., Ben Yaou, R., Bismuth, E., Boccara, F., Cariou, B., Chaouat, M., Charriot, G., Christin-Maitre, S., De Kerdanet, M., Delemer, B., Disse, E., Dubois, N., Eymard, B., Fève, B., Lascols, O., Mathurin, P., Nobécourt, E., Poujol-Robert, A., Prevost, G., Richard, P., Sellam, J., Tauveron, I., Treboz, D., Vergès, B., Vermot-Desroches, V., Wahbi, K., Jéru, I., Vantyghem, M. C., and Vigouroux, C.

Published
2022
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6. Amenorree

Author

Laot, L., primary, Bretault, M., additional, and Christin-Maitre, S., additional

Published
2024
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7. Amenorreas

Author

Laot, L., primary, Bretault, M., additional, and Christin-Maitre, S., additional

Published
2023
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18. Premature Ovarian Insufficiency in CLPB Deficiency: Transcriptomic, Proteomic and Phenotypic Insights

Author

Tucker, E.J., Baker, M.J., Hock, D.H., Warren, J.T., Jaillard, S., Bell, K.M., Sreenivasan, R., Bakhshalizadeh, S., Hanna, C.A., Caruana, N.J., Wortmann, S.B., Rahman, S., Pitceathly, R.D.S., Donadieu, J., Alimi, A., Launay, V., Coppo, P., Christin-Maitre, S., Robevska, G., Bergen, J. van, Kline, B.L., Ayers, K.L., Stewart, P.N., Stroud, D.A., Stojanovski, D., Sinclair, A.H., Tucker, E.J., Baker, M.J., Hock, D.H., Warren, J.T., Jaillard, S., Bell, K.M., Sreenivasan, R., Bakhshalizadeh, S., Hanna, C.A., Caruana, N.J., Wortmann, S.B., Rahman, S., Pitceathly, R.D.S., Donadieu, J., Alimi, A., Launay, V., Coppo, P., Christin-Maitre, S., Robevska, G., Bergen, J. van, Kline, B.L., Ayers, K.L., Stewart, P.N., Stroud, D.A., Stojanovski, D., and Sinclair, A.H.

Abstract

Item does not contain fulltext, CONTEXT: Premature ovarian insufficiency (POI) is a common form of female infertility that usually presents as an isolated condition but can be part of various genetic syndromes. Early diagnosis and treatment of POI can minimize comorbidity and improve health outcomes. OBJECTIVE: We aimed to determine the genetic cause of syndromic POI, intellectual disability, neutropenia, and cataracts. METHODS: We performed whole-exome sequencing (WES) followed by functional validation via RT-PCR, RNAseq, and quantitative proteomics, as well as clinical update of previously reported patients with variants in the caseinolytic peptidase B (CLPB) gene. RESULTS: We identified causative variants in CLPB, encoding a mitochondrial disaggregase. Variants in this gene are known to cause an autosomal recessive syndrome involving 3-methylglutaconic aciduria, neurological dysfunction, cataracts, and neutropenia that is often fatal in childhood; however, there is likely a reporting bias toward severe cases. Using RNAseq and quantitative proteomics we validated causation and gained insight into genotype:phenotype correlation. Clinical follow-up of patients with CLPB deficiency who survived to adulthood identified POI and infertility as a common postpubertal ailment. CONCLUSION: A novel splicing variant is associated with CLPB deficiency in an individual who survived to adulthood. POI is a common feature of postpubertal female individuals with CLPB deficiency. Patients with CLPB deficiency should be referred to pediatric gynecologists/endocrinologists for prompt POI diagnosis and hormone replacement therapy to minimize associated comorbidities.

Published
2022

19. Premature Ovarian Insufficiency in CLPB Deficiency: Transcriptomic, Proteomic and Phenotypic Insights

Author

Tucker, EJ, Baker, MJ, Hock, DH, Warren, JT, Jaillard, S, Bell, KM, Sreenivasan, R, Bakhshalizadeh, S, Hanna, CA, Caruana, NJ, Wortmann, SB, Rahman, S, Pitceathly, RDS, Donadieu, J, Alimi, A, Launay, V, Coppo, P, Christin-Maitre, S, Robevska, G, van den Bergen, J, Kline, BL, Ayers, KL, Stewart, PN, Stroud, DA, Stojanovski, D, Sinclair, AH, Tucker, EJ, Baker, MJ, Hock, DH, Warren, JT, Jaillard, S, Bell, KM, Sreenivasan, R, Bakhshalizadeh, S, Hanna, CA, Caruana, NJ, Wortmann, SB, Rahman, S, Pitceathly, RDS, Donadieu, J, Alimi, A, Launay, V, Coppo, P, Christin-Maitre, S, Robevska, G, van den Bergen, J, Kline, BL, Ayers, KL, Stewart, PN, Stroud, DA, Stojanovski, D, and Sinclair, AH

Abstract

CONTEXT: Premature ovarian insufficiency (POI) is a common form of female infertility that usually presents as an isolated condition but can be part of various genetic syndromes. Early diagnosis and treatment of POI can minimize comorbidity and improve health outcomes. OBJECTIVE: We aimed to determine the genetic cause of syndromic POI, intellectual disability, neutropenia, and cataracts. METHODS: We performed whole-exome sequencing (WES) followed by functional validation via RT-PCR, RNAseq, and quantitative proteomics, as well as clinical update of previously reported patients with variants in the caseinolytic peptidase B (CLPB) gene. RESULTS: We identified causative variants in CLPB, encoding a mitochondrial disaggregase. Variants in this gene are known to cause an autosomal recessive syndrome involving 3-methylglutaconic aciduria, neurological dysfunction, cataracts, and neutropenia that is often fatal in childhood; however, there is likely a reporting bias toward severe cases. Using RNAseq and quantitative proteomics we validated causation and gained insight into genotype:phenotype correlation. Clinical follow-up of patients with CLPB deficiency who survived to adulthood identified POI and infertility as a common postpubertal ailment. CONCLUSION: A novel splicing variant is associated with CLPB deficiency in an individual who survived to adulthood. POI is a common feature of postpubertal female individuals with CLPB deficiency. Patients with CLPB deficiency should be referred to pediatric gynecologists/endocrinologists for prompt POI diagnosis and hormone replacement therapy to minimize associated comorbidities.

Published
2022

23. Prévalence et caractéristiques du gonadoblastome dans une cohorte de 70 patientes avec un syndrome de Turner 45,X/46,XY

Author

Karila, D., primary, Donadille, B., additional, Leger, J., additional, Bouvattier, C., additional, Touraine, P., additional, Kerlan, V., additional, Catteau-Jonard, S., additional, Salenave, S., additional, Albarel, F., additional, Rodien, P., additional, Coutant, R., additional, Brac De La Perriere, A., additional, Siffroi, J.P., additional, and Christin Maitre, S., additional

Published
2021
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26. Adénome hypophysaire et NEM1–nouvelles données issues de la cohorte du GTE (Groupe d’étude des tumeurs endocrines)

Author

Le Bras, M., primary, Leclerc, H., additional, Rousseau, O., additional, Goudet, P., additional, Cuny, T., additional, Castinetti, F., additional, Cardot-Bauters, C., additional, Chanson, P., additional, Tabarin, A., additional, Gaujoux, S., additional, Christin-Maitre, S., additional, Ruszniewski, P., additional, Borson-Chazot, F., additional, Guilhem, I., additional, Caron, P., additional, Goichot, B., additional, Beckers, A., additional, Delemer, B., additional, Raingeard, I., additional, Verges, B., additional, Smati-Grangeon, S., additional, Wargny, M., additional, Cariou, B., additional, and Hadjadj, S., additional

Published
2021
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29. NEXT GENERATION SEQUENCING SHOULD BE PROPOSED TO EVERY WOMAN WITH 'IDIOPATHIC' PREMATURE OVARIAN INSUFFICIENCY

Author

Eskenazi, S., Bachelot, A., Hugon-Rodin, J, Plu-Bureau, G, Gompel, A., Catteau- Jonard, S, Molina-Gomes, D., Dewailly, D, Dodé, C, Christin-Maitre, S, Touraine, P, Service d'Endocrinologie, diabétologie et endocrinologie de la reproduction [CHU Saint-Antoine], CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service d’endocrinologie et médecine de la reproduction [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Gynécologie et Obstétrique [Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Gynécologie - Obstétrique [Lille], Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Département de biologie de la reproduction et de gynécologie [CHIPS, Poissy], centre hospitalier intercommunal de Poissy/Saint-Germain-en-Laye - CHIPS [Poissy], and Service de biochimie et de génétique moléculaire [CHU Cochin]

Subjects
next generation sequencing, endocrine system, phenotype, genetic results, [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, primary ovarian insufficiency
Abstract

International audience; IntroductionPrimary ovarian insufficiency (POI) affects 1% of women under 40 years old. POI is idiopathic in more than 70% of cases. Though many candidate genes have been identified in recent years, the prevalence and pathogenicity of abnormalities are still difficult to establish.ObjectivesOur primary objective was to evaluate the prevalence of gene variations in a large prospective multicentric POI cohort. Our secondary objective was to evaluate the correlation between phenotype and genotype.Patients and MethodsTwo hundred and sixty-nine well-phenotyped POI patients were screened for variants of 18 known POI genes (BMP15, DMC1, EIF2S2, FIGLA, FOXL2, FSHR, GDF9, GPR3, HFM1, LHX8, MSH5, NOBOX, NR5A1, PGRMC1, STAG3, XPNPEP2, BHLB and FSHB) by next generation sequencing (NGS). Abnormalities were classified as “variant” or “variant of unknown signification” (VUS) according to available functional tests or algorithms (SIFT, Polyphen-2, MutationTaster).ResultsOne hundred and two patients (38%) were identified as having at least 1 genetic abnormality. Sixty-seven patients (25%) presented at least 1 variant. Forty eight patients presented at least 1 VUS (18%). Thirteen patients (5%) had combined abnormalities. NOBOX variants were the most common gene variants involved in POI (9%). Interestingly, we saw no significant differences in the previous family history of POI, ethnic origin, age at onset of POI, primary amenorrhea or secondary menstrual disturbances between the different genotypes.ConclusionIn our study, a high percentage of patients presented gene variants detected by NGS analysis (38%). Every POI patient should undergo NGS analysis to improve medical cares of the patients.

Published
2021
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33. La Réunion nationale de concertation pluridisciplinaire « syndrome de Turner, cœur et grossesse » : évaluation à 5 ans

Author

Bonnaudet, M., Belalem, I., Donadille, B., Nedelcu, M., Bourcigaux, N., Ederhy, S., Bachelot, A., Milleron, O., Iserin, L., Nizard, J., Brac De La Perrière, A., and Christin-Maitre, S.

Abstract

Les grossesses chez les femmes avec un syndrome de Turner (ST) sont à haut risque, en raison d’éventuelles pathologies cardiovasculaires et/ou hépatiques. Ainsi, une réunion de concertation pluridisciplinaire (RCP) nationale a été créée pour valider les projets de grossesse chez ces femmes avec des cardiologues, des gynéco-obstétriciens et des endocrinologues.

Published
2024
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36. Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome

Author

Beysen, D., Raes, J., Leroy, B.P., Lucassen, A., Yates, J.R.W., Clayton-Smith, J., Ilyina, H., Brooks, S. Sklower, Christin-Maitre, S., Fellous, M., Fryns, J.P., Kim, J.R., Lapunzina, P., Lemyre, E., Meire, F., Messiaen, L.M., Oley, C., Splitt, M., Thomson, J., Van de Peer, Y., Veitia, R.A., De Paepe, A., and De Baere, E.

Subjects
Human genetics -- Research, Genetic disorders -- Research, Chromosome abnormalities -- Research, Biological sciences
Published
2005

41. Statut gonadotrope de 56 femmes adultes atteintes d’un syndrome d’interruption de la tige pituitaire

Author

Terray, A., primary, Young, J., additional, Brue, T., additional, Raverot, G., additional, Illouz, F., additional, Christin Maitre, S., additional, Delemer, B., additional, Reznik, Y., additional, Scharbarg, E., additional, Vigan, M., additional, Kab, S., additional, Goldberg, M., additional, Zins, M., additional, and Raffin Sanson, M.L., additional

Published
2020
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42. Caractérisation des ganglioneuromes de la surrénale : une étude rétrospective multicentrique de 106 cas issus du réseau COMETE

Author

Deflorenne, E., primary, Peuchmaur, M., additional, Vezzosi, D., additional, Ajzenberg, C., additional, Brunaud, L., additional, Chevalier, N., additional, Christin-Maitre, S., additional, Decoudier, B., additional, Driessens, N., additional, Drui, D., additional, Gilly, O., additional, Goudet, P., additional, Illouz, F., additional, Jublanc, C., additional, Lefebvre, H., additional, Lopez, A.G., additional, Lussey-Lepoutre, C., additional, Morini, A., additional, Pierre, P., additional, Raffin-Sanson, M.L., additional, Raingeard, I., additional, Storey, C., additional, Tabarin, A., additional, Vantyghem, M.C., additional, Vidal-Petiot, E., additional, Baudin, E., additional, Bertherat, J., additional, and Amar, L., additional

Published
2020
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43. Identification de paramètres cliniques prédictifs d’une mutation d’ARMC5 dans une grande cohorte de patients porteurs d’Hyperplasie Macronodulaire Bilatérale des Surrénales (HMBS)

Author

Bouys, L., primary, Vaczlavik, A., additional, Vaduva, P., additional, Espiard, S., additional, Assié, G., additional, Libé, R., additional, Perlemoine, K., additional, Ragazzon, B., additional, Guignat, L., additional, Groussin, L., additional, Chabre, O., additional, Christin-Maitre, S., additional, Lefebvre, H., additional, Raffin-Sanson, M.L., additional, Vantyghem, M.C., additional, Cole, T., additional, Beuschlein, F., additional, Quinkler, M., additional, Angelousi, A., additional, Brue, T., additional, Chevalier, N., additional, Touraine, P., additional, Agapito, A., additional, Tabarin, A., additional, Borson-Chazot, F., additional, Kroiss, M., additional, Arlt, W., additional, Chanson, P., additional, Reincke, M., additional, North, M.O., additional, and Bertherat, J., additional

Published
2020
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