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  1. Article ; Online: Fetal and Neonatal Thyroid Dysfunction.

    Léger, Juliane / Delcour, Clemence / Carel, Jean-Claude

    The Journal of clinical endocrinology and metabolism

    2021  Volume 107, Issue 3, Page(s) 836–846

    Abstract: Fetal and neonatal dysfunctions include rare serious disorders involving abnormal thyroid function during the second half of gestation, which may persist throughout life, as for most congenital thyroid disorders, or be transient, resolving in the first ... ...

    Abstract Fetal and neonatal dysfunctions include rare serious disorders involving abnormal thyroid function during the second half of gestation, which may persist throughout life, as for most congenital thyroid disorders, or be transient, resolving in the first few weeks of life, as in autoimmune hyperthyroidism or hypothyroidism and some cases of congenital hypothyroidism (CH) with the thyroid gland in situ. Primary CH is diagnosed by neonatal screening, which has been implemented for 40 years in developed countries and should be introduced worldwide, as early treatment prevents irreversible neurodevelopmental delay. Central CH is a rarer entity occurring mostly in association with multiple pituitary hormone deficiencies. Other rare disorders impair the action of thyroid hormones. Neonatal Graves' disease (GD) results from the passage of thyrotropin receptor antibodies (TRAbs) across the placenta, from mother to fetus. It may affect the fetuses and neonates of mothers with a history of current or past GD, but hyperthyroidism develops only in those with high levels of stimulatory TRAb activity. The presence of antibodies predominantly blocking thyroid-stimulating hormone receptors may result in transient hypothyroidism, possibly followed by neonatal hyperthyroidism, depending on the balance between the antibodies present. Antithyroid drugs taken by the mother cross the placenta, treating potential fetal hyperthyroidism, but they may also cause transient fetal and neonatal hypothyroidism. Early diagnosis and treatment are key to optimizing the child's prognosis. This review focuses on the diagnosis and management of these patients during the fetal and neonatal periods. It includes the description of a case of fetal and neonatal autoimmune hyperthyroidism.
    MeSH term(s) Adult ; Autoantibodies/blood ; Autoantibodies/immunology ; Female ; Fetal Diseases/diagnosis ; Fetal Diseases/immunology ; Fetal Diseases/physiopathology ; Humans ; Infant, Newborn ; Neonatal Screening ; Thyroid Diseases/diagnosis ; Thyroid Diseases/immunology ; Thyroid Diseases/physiopathology ; Thyroid Gland/immunology ; Thyroid Gland/physiopathology ; Thyrotropin/immunology
    Chemical Substances Autoantibodies ; Thyrotropin (9002-71-5)
    Language English
    Publishing date 2021-10-12
    Publishing country United States
    Document type Case Reports ; Journal Article ; Review
    ZDB-ID 3029-6
    ISSN 1945-7197 ; 0021-972X
    ISSN (online) 1945-7197
    ISSN 0021-972X
    DOI 10.1210/clinem/dgab747
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Response to Letter to the Editor from De Zegher and Ibanes: On the rising incidence of early breast development.

    Léger, Juliane / Delcour, Clemence / de Roux, Nicolas / Carel, Jean-Claude

    European journal of endocrinology

    2021  Volume 185, Issue 1, Page(s) L3–L4

    MeSH term(s) Adiposity ; Breast ; Female ; Humans ; Incidence ; Obesity ; Puberty
    Language English
    Publishing date 2021-05-28
    Publishing country England
    Document type Journal Article ; Comment
    ZDB-ID 1183856-5
    ISSN 1479-683X ; 0804-4643
    ISSN (online) 1479-683X
    ISSN 0804-4643
    DOI 10.1530/EJE-21-0445
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Accompagnement des transidentiteés chez l’enfant et l’adolescent(e).

    Fiot, Élodie / Lebrun, Charlotte / Delcour, Clémence / Rogez, Céline / Cohen, Alicia / Martinerie, Lætitia

    Medecine sciences : M/S

    2022  Volume 38, Issue 11, Page(s) 897–904

    Abstract: Transgender children and adolescents can be supported in France by multidisciplinary teams since the creation of dedicated consults in 2014. The personalized support provided relies on international recommendations based on scientific studies that have ... ...

    Title translation Care for transgender children and adolescents.
    Abstract Transgender children and adolescents can be supported in France by multidisciplinary teams since the creation of dedicated consults in 2014. The personalized support provided relies on international recommendations based on scientific studies that have demonstrated the beneficial impact of such support in the short and medium term. However, many ethical and medical questions remain, particularly on the long-term effects of treatments or the impact on fertility. The continuing accumulation of data will provide these young people and their families with the most enlightened information possible.
    MeSH term(s) Child ; Adolescent ; Humans ; Transgender Persons ; Fertility ; France ; Morals ; Referral and Consultation
    Language French
    Publishing date 2022-11-30
    Publishing country France
    Document type English Abstract ; Journal Article
    ZDB-ID 632733-3
    ISSN 1958-5381 ; 0767-0974
    ISSN (online) 1958-5381
    ISSN 0767-0974
    DOI 10.1051/medsci/2022150
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  4. Article: PCOS and Hyperprolactinemia: what do we know in 2019?

    Delcour, Clémence / Robin, Geoffroy / Young, Jacques / Dewailly, Didier

    Clinical medicine insights. Reproductive health

    2019  Volume 13, Page(s) 1179558119871921

    Abstract: Polycystic ovary syndrome (PCOS) and hyperprolactinemia (HPRL) are the two most common etiologies of anovulation in women. Since the 1950s, some authors think that there is a pathophysiological link between PCOS and HPRL. Since then, many authors have ... ...

    Abstract Polycystic ovary syndrome (PCOS) and hyperprolactinemia (HPRL) are the two most common etiologies of anovulation in women. Since the 1950s, some authors think that there is a pathophysiological link between PCOS and HPRL. Since then, many authors have speculated about the link between these two endocrine entities, but no hypothesis proposed so far could ever be confirmed. Furthermore, PCOS and HPRL are frequent endocrine diseases and a fortuitous association cannot be excluded. The evolution of knowledge about PCOS and HPRL shows that studies conducted before the 2000s are obsolete given current knowledge. Indeed, most of the studies were conducted before consensual diagnosis criteria of PCOS and included small numbers of patients. In addition, the investigation of HPRL in these studies relied on obsolete methods and did not look for the presence of macroprolactinemia. It is therefore possible that HPRL that has been attributed to PCOS corresponded in fact to macroprolactinemia or to pituitary microadenomas of small sizes that could not be detected with the imaging methods of the time. Recent studies that have conducted a rigorous etiological investigation show that HPRL found in PCOS correspond either to non-permanent increase of prolactin levels, to macroprolactinemia or to other etiologies. None of this recent study found HPRL related to PCOS in these patients. Thus, the link between PCOS and HPRL seems to be more of a myth than a well-established medical reality and we believe that the discovery of an HPRL in a PCOS patient needs a standard etiological investigation of HPRL.
    Language English
    Publishing date 2019-09-09
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 2574643-1
    ISSN 1179-5581
    ISSN 1179-5581
    DOI 10.1177/1179558119871921
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Estrogen Receptor α Inactivation in 2 Sisters: Different Phenotypic Severities for the Same Pathogenic Variant.

    Delcour, Clémence / Khawaja, Nahla / Gonzalez-Duque, Sergio / Lebon, Sophie / Talbi, Abir / Drira, Leila / Chevenne, Didier / Ajlouni, Kamel / de Roux, Nicolas

    The Journal of clinical endocrinology and metabolism

    2022  Volume 107, Issue 6, Page(s) e2553–e2562

    Abstract: Context: Estrogens play an essential role in reproduction. Their action is mediated by nuclear α and β receptors (ER) and by membrane receptors. Only 3 females and 2 males, from 3 families, with a loss of ERα function have been reported to date.: ... ...

    Abstract Context: Estrogens play an essential role in reproduction. Their action is mediated by nuclear α and β receptors (ER) and by membrane receptors. Only 3 females and 2 males, from 3 families, with a loss of ERα function have been reported to date.
    Objective: We describe here a new family, in which 2 sisters display endocrine and ovarian defects of different severities despite carrying the same homozygous rare variant of ESR1.
    Methods: A 36-year-old woman from a consanguineous Jordanian family presented with primary amenorrhea and no breast development, with high plasma levels of 17β-estradiol (E2), follicle-stimulating hormone and luteinizing hormone, and enlarged multifollicular ovaries, strongly suggesting estrogen resistance. Her 18-year-old sister did not enter puberty and had moderately high levels of E2, high plasma gonadotropin levels, and normal ovaries.
    Results: Genetic analysis identified a homozygous variant of ESR1 leading to the replacement of a highly conserved glutamic acid with a valine (ERα-E385V). The transient expression of ERα-E385V in HEK293A and MDA-MB231 cells revealed highly impaired ERE-dependent transcriptional activation by E2. The analysis of the KISS1 promoter activity revealed that the E385V substitution induced a ligand independent activation of ERα. Immunofluorescence analysis showed that less ERα-E385V than ERα-WT was translocated into the nucleus in the presence of E2.
    Conclusion: These 2 new cases are remarkable given the difference in the severity of their ovarian and hormonal phenotypes. This phenotypic discrepancy may be due to a mechanism partially compensating for the ERα loss of function.
    MeSH term(s) Estradiol/pharmacology ; Estrogen Receptor alpha/genetics ; Estrogen Receptor alpha/metabolism ; Estrogen Receptor beta/genetics ; Estrogens/pharmacology ; Female ; Humans ; Male ; Phenotype ; Transcriptional Activation
    Chemical Substances Estrogen Receptor alpha ; Estrogen Receptor beta ; Estrogens ; Estradiol (4TI98Z838E)
    Language English
    Publishing date 2022-01-29
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 3029-6
    ISSN 1945-7197 ; 0021-972X
    ISSN (online) 1945-7197
    ISSN 0021-972X
    DOI 10.1210/clinem/dgac065
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Ovarian tissue cryopreservation for fertility preservation before hematopoietic stem cell transplantation in patients with sickle cell disease: safety, ovarian function follow-up, and results of ovarian tissue transplantation.

    Missontsa, Mitawa Millin / Bernaudin, Françoise / Fortin, Anne / Dhédin, Nathalie / Pondarré, Corinne / Yakouben, Karima / Neven, Bénédicte / Castelle, Martin / Cavazzana, Marina / Lezeau, Harry / Peycelon, Matthieu / Paye-Jaouen, Annabel / Sroussi, Jeremy / Diesch-Furlanetto, Tamara / Barraud-Lange, Virginie / Sarnacki, Sabine / Fahd, Mony / Marchand, Isis / Delcour, Clémence /
    Vexiau, Dominique / Arlet, Jean-Benoît / Kamdem, Annie / Arnaud, Cécile / Dalle, Jean-Hugues / Poirot, Catherine

    Journal of assisted reproduction and genetics

    2024  Volume 41, Issue 4, Page(s) 1027–1034

    Abstract: Purpose: To describe the experience of performing ovarian tissue cryopreservation (OTC) before hematopoietic stem cell transplantation (HSCT), among girls/women with severe sickle cell disease (SCD)(SS or S/β: Methods: This retrospective study ... ...

    Abstract Purpose: To describe the experience of performing ovarian tissue cryopreservation (OTC) before hematopoietic stem cell transplantation (HSCT), among girls/women with severe sickle cell disease (SCD)(SS or S/β
    Methods: This retrospective study included 75 patients (girls/women) with SCD who have had OTC before myeloablative conditioning regimen (MAC) for HSCT. Characteristics of patients and data on OTC, ovarian status follow-up, and results of ovarian tissue transplantation (OTT) were collected in medical records.
    Results: At OTC, the median (IQR 25-75; range) age of the patients was 9.6 (6.9-14.1; 3.6-28.3) years, 56/75 were prepubertal, and no SCD or surgery-related complications occurred. The median follow-up post-HSCT was > 9 years. At the last follow-up, among prepubertal patients at HSCT, 26/56 were ≥ 15 years old and presented with a premature ovarian insufficiency (POI), except 2, including the patient who had received an OTT to induce puberty. Eight were 13-15 years old and presented for POI. The remaining 22 patients were under 13. Among the 19 patients who were menarche at HSCT, 2 died 6 months post-HSCT and we do not have ovarian function follow-up for the other 2 patients. All the remaining patients (n = 15) had POI. Five patients had OTT. All had a return of ovarian function. One patient gave birth to a healthy baby.
    Conclusion: OTC is a safe fertility preservation technique and could be offered before MAC independent of the patient's age.
    MeSH term(s) Humans ; Female ; Fertility Preservation/methods ; Hematopoietic Stem Cell Transplantation/methods ; Hematopoietic Stem Cell Transplantation/adverse effects ; Cryopreservation/methods ; Anemia, Sickle Cell/therapy ; Ovary/transplantation ; Child ; Adolescent ; Adult ; Primary Ovarian Insufficiency ; Follow-Up Studies ; Young Adult ; Child, Preschool ; Retrospective Studies ; Transplantation Conditioning/methods ; Transplantation Conditioning/adverse effects ; Pregnancy
    Language English
    Publishing date 2024-02-15
    Publishing country Netherlands
    Document type Journal Article
    ZDB-ID 1112577-9
    ISSN 1573-7330 ; 1058-0468
    ISSN (online) 1573-7330
    ISSN 1058-0468
    DOI 10.1007/s10815-024-03054-4
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: Weekly intramuscular progesterone for luteal phase support in women receiving oocyte donation is associated with a decreased miscarriage rate.

    Delcour, Clémence / Robin, Geoffroy / Delesalle, Anne-Sophie / Drumez, Elodie / Plouvier, Pauline / Dewailly, Didier / Catteau-Jonard, Sophie

    Reproductive biomedicine online

    2019  Volume 39, Issue 3, Page(s) 446–451

    Abstract: Research question: To determine whether adding intramuscular to vaginal administration of progesterone reduces miscarriage rates compared with those of vaginal administration alone for luteal phase support in women receiving oocyte donation and to ... ...

    Abstract Research question: To determine whether adding intramuscular to vaginal administration of progesterone reduces miscarriage rates compared with those of vaginal administration alone for luteal phase support in women receiving oocyte donation and to determine the best time to introduce intramuscular progesterone.
    Design: Retrospective analysis of miscarriage rates in women receiving oocyte donation. Recipients underwent endometrial preparation by hormone replacement treatment. Vaginal progesterone alone or associated with intramuscular progesterone was used for luteal support.
    Results: This study analysed 186 oocyte donation cycles from January 2016 to May 2018 with embryo transfer on Day 2 or 3 and vaginal progesterone administration: 106 embryo transfer cycles with vaginal progesterone alone, 29 with weekly intramuscular progesterone added once the human chorionic gonadotrophin (HCG) assay was positive, and 51 with weekly intramuscular progesterone added the evening of embryo transfer. The rates of positive HCG assays, biochemical pregnancies and clinical pregnancies did not differ between the treatment groups. The miscarriage rate was significantly lower when intramuscular progesterone began the evening of embryo transfer than with vaginal administration alone (16.7% versus 47.0%, respectively; P = 0.049 after Bonferroni correction). The live birth rate was higher when intramuscular progesterone began the evening of embryo transfer than with vaginal administration alone (37.3% versus 16.0%, respectively; P = 0.009 after Bonferroni correction).
    Conclusions: Adding intramuscular to vaginal progesterone administration appears to decrease the miscarriage rate and increase the live birth rate in oocyte donations. The initiation of intramuscular progesterone is most beneficial when it is introduced the evening of embryo transfer.
    MeSH term(s) Abortion, Spontaneous/epidemiology ; Abortion, Spontaneous/prevention & control ; Administration, Intravaginal ; Adult ; Embryo Transfer/statistics & numerical data ; Female ; France/epidemiology ; Humans ; Injections, Intramuscular ; Luteal Phase ; Oocyte Donation ; Pilot Projects ; Pregnancy ; Progesterone/administration & dosage ; Progestins/administration & dosage ; Retrospective Studies ; Young Adult
    Chemical Substances Progestins ; Progesterone (4G7DS2Q64Y)
    Language English
    Publishing date 2019-05-08
    Publishing country Netherlands
    Document type Journal Article
    ZDB-ID 2113823-0
    ISSN 1472-6491 ; 1472-6483
    ISSN (online) 1472-6491
    ISSN 1472-6483
    DOI 10.1016/j.rbmo.2019.05.001
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article ; Online: Early formative objective structured clinical examinations for students in the pre-clinical years of medical education: A non-randomized controlled prospective pilot study.

    Ouldali, Naïm / Le Roux, Enora / Faye, Albert / Leblanc, Claire / Angoulvant, François / Korb, Diane / Delcour, Clémence / Caula, Caroline / Wohrer, Delphine / Rybak, Alexis / Delafoy, Manon / Carrié, Claire / Strullu, Marion / Oualha, Mehdi / Levy, Romain / Mimoun, Camille / Griffon, Lucie / Nuzzo, Alexandre / Eyraud, Clara /
    Levy, Michael / Ellul, Pierre

    PloS one

    2023  Volume 18, Issue 12, Page(s) e0294022

    Abstract: Background: The value of formative objective structured clinical examinations (OSCEs) during the pre-clinical years of medical education remains unclear. We aimed to assess the effectiveness of a formative OSCE program for medical students in their pre- ... ...

    Abstract Background: The value of formative objective structured clinical examinations (OSCEs) during the pre-clinical years of medical education remains unclear. We aimed to assess the effectiveness of a formative OSCE program for medical students in their pre-clinical years on subsequent performance in summative OSCE.
    Methods: We conducted a non-randomized controlled prospective pilot study that included all medical students from the last year of the pre-clinical cycle of the Université Paris-Cité Medical School, France, in 2021. The intervention group received the formative OSCE program, which consisted of four OSCE sessions, followed by debriefing and feedback, whereas the control group received the standard teaching program. The main objective of this formative OSCE program was to develop skills in taking a structured medical history and communication. All participants took a final summative OSCE. The primary endpoint was the summative OSCE mark in each group. A questionnaire was also administered to the intervention-group students to collect their feedback. A qualitative analysis, using a convenience sample, was conducted by gathering data pertaining to the process through on-site participative observation of the formative OSCE program.
    Results: Twenty students were included in the intervention group; 776 in the control group. We observed a significant improvement with each successive formative OSCE session in communication skills and in taking a structured medical history (p<0.0001 for both skills). Students from the intervention group performed better in a summative OSCE that assessed the structuring of a medical history (median mark 16/20, IQR [15; 17] versus 14/20, [13; 16], respectively, p = 0.012). Adjusted analyses gave similar results. The students from the intervention group reported a feeling of improved competence and a reduced level of stress at the time of the evaluation, supported by the qualitative data showing the benefits of the formative sessions.
    Conclusion: Our findings suggest that an early formative OSCE program is suitable for the pre-clinical years of medical education and is associated with improved student performance in domains targeted by the program.
    MeSH term(s) Humans ; Pilot Projects ; Prospective Studies ; Clinical Competence ; Education, Medical, Undergraduate/methods ; Education, Medical ; Students, Medical ; Educational Measurement/methods
    Language English
    Publishing date 2023-12-07
    Publishing country United States
    Document type Clinical Trial ; Controlled Clinical Trial ; Journal Article
    ZDB-ID 2267670-3
    ISSN 1932-6203 ; 1932-6203
    ISSN (online) 1932-6203
    ISSN 1932-6203
    DOI 10.1371/journal.pone.0294022
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article ; Online: ATG7 and ATG9A loss-of-function variants trigger autophagy impairment and ovarian failure.

    Delcour, Clémence / Amazit, Larbi / Patino, Liliana C / Magnin, Françoise / Fagart, Jérôme / Delemer, Brigitte / Young, Jacques / Laissue, Paul / Binart, Nadine / Beau, Isabelle

    Genetics in medicine : official journal of the American College of Medical Genetics

    2018  Volume 21, Issue 4, Page(s) 930–938

    Abstract: Purpose: Primary ovarian insufficiency (POI) is a frequent disorder that affects ~1% of women under 40 years of age. POI, which is characterized by the premature depletion of ovarian follicles and elevated plasma levels of follicle-stimulating hormone ( ... ...

    Abstract Purpose: Primary ovarian insufficiency (POI) is a frequent disorder that affects ~1% of women under 40 years of age. POI, which is characterized by the premature depletion of ovarian follicles and elevated plasma levels of follicle-stimulating hormone (FSH), leads to infertility. Although various etiological factors have been described, including chromosomal abnormalities and gene variants, most cases remain idiopathic. The aim of the present study was to identify and validate functionally new sequence variants in ATG (autophagy-related genes) leading to POI.
    Methods: We have reanalyzed, in silico, the exome sequencing data from a previously reported work performed in 69 unrelated POI women. Functional experiments using a classical hallmark of autophagy, the microtubule-associated protein 1 light chain 3β (LC3), were then used to link these genes to this lysosomal degradation pathway.
    Results: We venture a functional link between ATG7 and ATG9A variants and POI. We demonstrated that variant ATG7 and ATG9A led to a decrease in autophagosome biosynthesis and consequently to an impairment of autophagy, a key biological process implicated in the preservation of the primordial follicles forming the ovarian reserve.
    Conclusion: Our results unveil that impaired autophagy is a novel pathophysiological mechanism involved in human POI.
    MeSH term(s) Adult ; Autophagy/genetics ; Autophagy-Related Protein 7/genetics ; Autophagy-Related Proteins/genetics ; Female ; Follicle Stimulating Hormone/genetics ; Genetic Predisposition to Disease ; Humans ; Loss of Function Mutation/genetics ; Membrane Proteins/genetics ; Menopause, Premature/genetics ; Primary Ovarian Insufficiency/genetics ; Primary Ovarian Insufficiency/pathology ; Vesicular Transport Proteins/genetics ; Exome Sequencing
    Chemical Substances ATG9A protein, human ; Autophagy-Related Proteins ; Membrane Proteins ; Vesicular Transport Proteins ; Follicle Stimulating Hormone (9002-68-0) ; ATG7 protein, human (EC 6.2.1.45) ; Autophagy-Related Protein 7 (EC 6.2.1.45)
    Language English
    Publishing date 2018-09-19
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1455352-1
    ISSN 1530-0366 ; 1098-3600
    ISSN (online) 1530-0366
    ISSN 1098-3600
    DOI 10.1038/s41436-018-0287-y
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  10. Article ; Online: Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol).

    Fiot, Elodie / Alauze, Bertille / Donadille, Bruno / Samara-Boustani, Dinane / Houang, Muriel / De Filippo, Gianpaolo / Bachelot, Anne / Delcour, Clemence / Beyler, Constance / Bois, Emilie / Bourrat, Emmanuelle / Bui Quoc, Emmanuel / Bourcigaux, Nathalie / Chaussain, Catherine / Cohen, Ariel / Cohen-Solal, Martine / Da Costa, Sabrina / Dossier, Claire / Ederhy, Stephane /
    Elmaleh, Monique / Iserin, Laurence / Lengliné, Hélène / Poujol-Robert, Armelle / Roulot, Dominique / Viala, Jerome / Albarel, Frederique / Bismuth, Elise / Bernard, Valérie / Bouvattier, Claire / Brac, Aude / Bretones, Patricia / Chabbert-Buffet, Nathalie / Chanson, Philippe / Coutant, Regis / de Warren, Marguerite / Demaret, Béatrice / Duranteau, Lise / Eustache, Florence / Gautheret, Lydie / Gelwane, Georges / Gourbesville, Claire / Grynberg, Mickaël / Gueniche, Karinne / Jorgensen, Carina / Kerlan, Veronique / Lebrun, Charlotte / Lefevre, Christine / Lorenzini, Françoise / Manouvrier, Sylvie / Pienkowski, Catherine / Reynaud, Rachel / Reznik, Yves / Siffroi, Jean-Pierre / Tabet, Anne-Claude / Tauber, Maithé / Vautier, Vanessa / Tauveron, Igor / Wambre, Sebastien / Zenaty, Delphine / Netchine, Irène / Polak, Michel / Touraine, Philippe / Carel, Jean-Claude / Christin-Maitre, Sophie / Léger, Juliane

    Orphanet journal of rare diseases

    2022  Volume 17, Issue Suppl 1, Page(s) 261

    Abstract: Turner syndrome (TS; ORPHA 881) is a rare condition in which all or part of one X chromosome is absent from some or all cells. It affects approximately one in every 1/2500 liveborn girls. The most frequently observed karyotypes are 45,X (40-50%) and the ... ...

    Abstract Turner syndrome (TS; ORPHA 881) is a rare condition in which all or part of one X chromosome is absent from some or all cells. It affects approximately one in every 1/2500 liveborn girls. The most frequently observed karyotypes are 45,X (40-50%) and the 45,X/46,XX mosaic karyotype (15-25%). Karyotypes with an X isochromosome (45,X/46,isoXq or 45,X/46,isoXp), a Y chromosome, X ring chromosome or deletions of the X chromosome are less frequent. The objective of the French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins) is to provide health professionals with information about the optimal management and care for patients, based on a critical literature review and multidisciplinary expert consensus. The PNDS, written by members of the French National Reference Center for Rare Growth and Developmental Endocrine disorders, is available from the French Health Authority website. Turner Syndrome is associated with several phenotypic conditions and a higher risk of comorbidity. The most frequently reported features are growth retardation with short adult stature and gonadal dysgenesis. TS may be associated with various congenital (heart and kidney) or acquired diseases (autoimmune thyroid disease, celiac disease, hearing loss, overweight/obesity, glucose intolerance/type 2 diabetes, dyslipidemia, cardiovascular complications and liver dysfunction). Most of the clinical traits of TS are due to the haploinsufficiency of various genes on the X chromosome, particularly those in the pseudoautosomal regions (PAR 1 and PAR 2), which normally escape the physiological process of X inactivation, although other regions may also be implicated. The management of patients with TS requires collaboration between several healthcare providers. The attending physician, in collaboration with the national care network, will ensure that the patient receives optimal care through regular follow-up and screening. The various elements of this PNDS are designed to provide such support.
    MeSH term(s) Adult ; Chromosomes, Human, X/genetics ; Diabetes Mellitus, Type 2 ; Female ; Humans ; Karyotype ; Karyotyping ; Turner Syndrome/diagnosis ; Turner Syndrome/genetics ; Turner Syndrome/therapy
    Language English
    Publishing date 2022-07-12
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2225857-7
    ISSN 1750-1172 ; 1750-1172
    ISSN (online) 1750-1172
    ISSN 1750-1172
    DOI 10.1186/s13023-022-02423-5
    Database MEDical Literature Analysis and Retrieval System OnLINE

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