Titre : Troubles gonadiques

Troubles gonadiques : Questions médicales fréquentes

Termes MeSH sélectionnés :

Disorders of Sex Development

Questions fréquentes et termes MeSH associés

Diagnostic 5

#1

Comment diagnostiquer un trouble gonadique ?

Le diagnostic repose sur des tests hormonaux, échographies et examens cliniques.
Troubles gonadiques Tests hormonaux
#2

Quels tests sont utilisés pour évaluer la fonction gonadique ?

Les tests incluent les dosages de testostérone, d'œstrogènes et d'autres hormones.
Testostérone Hormones sexuelles
#3

Les imageries sont-elles nécessaires pour le diagnostic ?

Oui, des échographies ou IRM peuvent aider à visualiser les anomalies des gonades.
Échographie Imagerie par résonance magnétique
#4

Quels signes cliniques indiquent un trouble gonadique ?

Des signes comme l'infertilité, des irrégularités menstruelles ou des changements de libido.
Infertilité Irrégularités menstruelles
#5

Les antécédents médicaux sont-ils importants ?

Oui, les antécédents familiaux et personnels peuvent orienter le diagnostic.
Antécédents médicaux Évaluation clinique

Symptômes 5

#1

Quels sont les symptômes courants des troubles gonadiques ?

Les symptômes incluent fatigue, infertilité, dysfonction érectile et changements hormonaux.
Fatigue Dysfonction érectile
#2

Comment les troubles gonadiques affectent-ils la libido ?

Ils peuvent entraîner une diminution de la libido due à des déséquilibres hormonaux.
Libido Déséquilibres hormonaux
#3

Les troubles menstruels sont-ils liés aux troubles gonadiques ?

Oui, des irrégularités menstruelles peuvent signaler un dysfonctionnement gonadique.
Troubles menstruels Dysfonction gonadique
#4

Peut-on observer des changements physiques ?

Oui, des changements comme l'acné, la pilosité excessive ou la gynécomastie peuvent survenir.
Acné Gynécomastie
#5

Les troubles de l'humeur sont-ils fréquents ?

Oui, des troubles de l'humeur comme l'anxiété et la dépression peuvent être présents.
Troubles de l'humeur Anxiété

Prévention 5

#1

Comment prévenir les troubles gonadiques ?

Maintenir un mode de vie sain, éviter les toxines et gérer le stress sont essentiels.
Mode de vie sain Gestion du stress
#2

L'alimentation joue-t-elle un rôle ?

Oui, une alimentation équilibrée peut soutenir la santé hormonale et reproductive.
Alimentation équilibrée Santé reproductive
#3

Le tabagisme influence-t-il la santé gonadique ?

Oui, le tabagisme peut nuire à la fonction gonadique et à la fertilité.
Tabagisme Fertilité
#4

L'exercice physique est-il bénéfique ?

Oui, l'exercice régulier aide à réguler les hormones et à maintenir un poids santé.
Exercice physique Régulation hormonale
#5

Les examens médicaux réguliers sont-ils importants ?

Oui, des bilans réguliers peuvent aider à détecter précocement des troubles gonadiques.
Examens médicaux Détection précoce

Traitements 5

#1

Quels traitements sont disponibles pour les troubles gonadiques ?

Les traitements incluent des thérapies hormonales, des médicaments et parfois la chirurgie.
Thérapie hormonale Chirurgie
#2

La thérapie hormonale est-elle efficace ?

Oui, elle peut restaurer les niveaux hormonaux et améliorer les symptômes associés.
Thérapie hormonale Restauration hormonale
#3

Quand la chirurgie est-elle nécessaire ?

La chirurgie est envisagée en cas de tumeurs, malformations ou autres anomalies structurelles.
Chirurgie Tumeurs gonadiques
#4

Les traitements sont-ils personnalisés ?

Oui, les traitements sont adaptés en fonction des besoins individuels et des causes sous-jacentes.
Médecine personnalisée Causes sous-jacentes
#5

Y a-t-il des effets secondaires aux traitements ?

Oui, des effets secondaires peuvent inclure des changements d'humeur, des nausées ou des douleurs.
Effets secondaires Nausées

Complications 5

#1

Quelles complications peuvent survenir ?

Les complications incluent l'infertilité, des troubles métaboliques et des maladies cardiovasculaires.
Infertilité Maladies cardiovasculaires
#2

Les troubles gonadiques augmentent-ils le risque de cancer ?

Oui, certains troubles peuvent augmenter le risque de cancers hormonodépendants.
Cancer Risques oncologiques
#3

Comment les troubles gonadiques affectent-ils la santé mentale ?

Ils peuvent entraîner des troubles de l'humeur, de l'anxiété et des problèmes d'estime de soi.
Santé mentale Estime de soi
#4

Les complications sont-elles réversibles ?

Certaines complications peuvent être réversibles avec un traitement approprié et précoce.
Réversibilité Traitement précoce
#5

Les troubles gonadiques peuvent-ils affecter la qualité de vie ?

Oui, ils peuvent réduire la qualité de vie en raison de symptômes physiques et émotionnels.
Qualité de vie Symptômes émotionnels

Facteurs de risque 5

#1

Quels sont les facteurs de risque des troubles gonadiques ?

Les facteurs incluent l'âge, les antécédents familiaux, l'obésité et les maladies chroniques.
Âge Obésité
#2

Le stress peut-il influencer les troubles gonadiques ?

Oui, le stress chronique peut perturber l'équilibre hormonal et aggraver les troubles.
Stress Équilibre hormonal
#3

Les infections peuvent-elles être un facteur de risque ?

Oui, certaines infections sexuellement transmissibles peuvent affecter la fonction gonadique.
Infections sexuellement transmissibles Fonction gonadique
#4

L'exposition à des toxines est-elle préoccupante ?

Oui, l'exposition à des produits chimiques et toxines peut nuire à la santé gonadique.
Toxines Produits chimiques
#5

Les habitudes alimentaires influencent-elles le risque ?

Oui, une mauvaise alimentation peut contribuer à des déséquilibres hormonaux et à des troubles.
Habitudes alimentaires Déséquilibres hormonaux
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"https://questionsmedicales.fr/mesh/D006058?mesh_terms=Disorders+of+Sex+Development#section-traitements" }, { "@type": "MedicalWebPage", "name": "Complications", "headline": "Complications sur Troubles gonadiques", "description": "Quelles complications peuvent survenir ?\nLes troubles gonadiques augmentent-ils le risque de cancer ?\nComment les troubles gonadiques affectent-ils la santé mentale ?\nLes complications sont-elles réversibles ?\nLes troubles gonadiques peuvent-ils affecter la qualité de vie ?", "url": "https://questionsmedicales.fr/mesh/D006058?mesh_terms=Disorders+of+Sex+Development#section-complications" }, { "@type": "MedicalWebPage", "name": "Facteurs de risque", "headline": "Facteurs de risque sur Troubles gonadiques", "description": "Quels sont les facteurs de risque des troubles gonadiques ?\nLe stress peut-il influencer les troubles gonadiques ?\nLes infections peuvent-elles être un facteur de risque ?\nL'exposition à des toxines est-elle préoccupante ?\nLes habitudes alimentaires influencent-elles le risque ?", "url": "https://questionsmedicales.fr/mesh/D006058?mesh_terms=Disorders+of+Sex+Development#section-facteurs de risque" } ] }, { "@type": "FAQPage", "mainEntity": [ { "@type": "Question", "name": "Comment diagnostiquer un trouble gonadique ?", "position": 1, "acceptedAnswer": { "@type": "Answer", "text": "Le diagnostic repose sur des tests hormonaux, échographies et examens cliniques." } }, { "@type": "Question", "name": "Quels tests sont utilisés pour évaluer la fonction gonadique ?", "position": 2, "acceptedAnswer": { "@type": "Answer", "text": "Les tests incluent les dosages de testostérone, d'œstrogènes et d'autres hormones." } }, { "@type": "Question", "name": "Les imageries sont-elles nécessaires pour le diagnostic ?", "position": 3, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des échographies ou IRM peuvent aider à visualiser les anomalies des gonades." } }, { "@type": "Question", "name": "Quels signes cliniques indiquent un trouble gonadique ?", "position": 4, "acceptedAnswer": { "@type": "Answer", "text": "Des signes comme l'infertilité, des irrégularités menstruelles ou des changements de libido." } }, { "@type": "Question", "name": "Les antécédents médicaux sont-ils importants ?", "position": 5, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les antécédents familiaux et personnels peuvent orienter le diagnostic." } }, { "@type": "Question", "name": "Quels sont les symptômes courants des troubles gonadiques ?", "position": 6, "acceptedAnswer": { "@type": "Answer", "text": "Les symptômes incluent fatigue, infertilité, dysfonction érectile et changements hormonaux." } }, { "@type": "Question", "name": "Comment les troubles gonadiques affectent-ils la libido ?", "position": 7, "acceptedAnswer": { "@type": "Answer", "text": "Ils peuvent entraîner une diminution de la libido due à des déséquilibres hormonaux." } }, { "@type": "Question", "name": "Les troubles menstruels sont-ils liés aux troubles gonadiques ?", "position": 8, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des irrégularités menstruelles peuvent signaler un dysfonctionnement gonadique." } }, { "@type": "Question", "name": "Peut-on observer des changements physiques ?", "position": 9, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des changements comme l'acné, la pilosité excessive ou la gynécomastie peuvent survenir." } }, { "@type": "Question", "name": "Les troubles de l'humeur sont-ils fréquents ?", "position": 10, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des troubles de l'humeur comme l'anxiété et la dépression peuvent être présents." } }, { "@type": "Question", "name": "Comment prévenir les troubles gonadiques ?", "position": 11, "acceptedAnswer": { "@type": "Answer", "text": "Maintenir un mode de vie sain, éviter les toxines et gérer le stress sont essentiels." } }, { "@type": "Question", "name": "L'alimentation joue-t-elle un rôle ?", "position": 12, "acceptedAnswer": { "@type": "Answer", "text": "Oui, une alimentation équilibrée peut soutenir la santé hormonale et reproductive." } }, { "@type": "Question", "name": "Le tabagisme influence-t-il la santé gonadique ?", "position": 13, "acceptedAnswer": { "@type": "Answer", "text": "Oui, le tabagisme peut nuire à la fonction gonadique et à la fertilité." } }, { "@type": "Question", "name": "L'exercice physique est-il bénéfique ?", "position": 14, "acceptedAnswer": { "@type": "Answer", "text": "Oui, l'exercice régulier aide à réguler les hormones et à maintenir un poids santé." } }, { "@type": "Question", "name": "Les examens médicaux réguliers sont-ils importants ?", "position": 15, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des bilans réguliers peuvent aider à détecter précocement des troubles gonadiques." } }, { "@type": "Question", "name": "Quels traitements sont disponibles pour les troubles gonadiques ?", "position": 16, "acceptedAnswer": { "@type": "Answer", "text": "Les traitements incluent des thérapies hormonales, des médicaments et parfois la chirurgie." } }, { "@type": "Question", "name": "La thérapie hormonale est-elle efficace ?", "position": 17, "acceptedAnswer": { "@type": "Answer", "text": "Oui, elle peut restaurer les niveaux hormonaux et améliorer les symptômes associés." } }, { "@type": "Question", "name": "Quand la chirurgie est-elle nécessaire ?", "position": 18, "acceptedAnswer": { "@type": "Answer", "text": "La chirurgie est envisagée en cas de tumeurs, malformations ou autres anomalies structurelles." } }, { "@type": "Question", "name": "Les traitements sont-ils personnalisés ?", "position": 19, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les traitements sont adaptés en fonction des besoins individuels et des causes sous-jacentes." } }, { "@type": "Question", "name": "Y a-t-il des effets secondaires aux traitements ?", "position": 20, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des effets secondaires peuvent inclure des changements d'humeur, des nausées ou des douleurs." } }, { "@type": "Question", "name": "Quelles complications peuvent survenir ?", "position": 21, "acceptedAnswer": { "@type": "Answer", "text": "Les complications incluent l'infertilité, des troubles métaboliques et des maladies cardiovasculaires." } }, { "@type": "Question", "name": "Les troubles gonadiques augmentent-ils le risque de cancer ?", "position": 22, "acceptedAnswer": { "@type": "Answer", "text": "Oui, certains troubles peuvent augmenter le risque de cancers hormonodépendants." } }, { "@type": "Question", "name": "Comment les troubles gonadiques affectent-ils la santé mentale ?", "position": 23, "acceptedAnswer": { "@type": "Answer", "text": "Ils peuvent entraîner des troubles de l'humeur, de l'anxiété et des problèmes d'estime de soi." } }, { "@type": "Question", "name": "Les complications sont-elles réversibles ?", "position": 24, "acceptedAnswer": { "@type": "Answer", "text": "Certaines complications peuvent être réversibles avec un traitement approprié et précoce." } }, { "@type": "Question", "name": "Les troubles gonadiques peuvent-ils affecter la qualité de vie ?", "position": 25, "acceptedAnswer": { "@type": "Answer", "text": "Oui, ils peuvent réduire la qualité de vie en raison de symptômes physiques et émotionnels." } }, { "@type": "Question", "name": "Quels sont les facteurs de risque des troubles gonadiques ?", "position": 26, "acceptedAnswer": { "@type": "Answer", "text": "Les facteurs incluent l'âge, les antécédents familiaux, l'obésité et les maladies chroniques." } }, { "@type": "Question", "name": "Le stress peut-il influencer les troubles gonadiques ?", "position": 27, "acceptedAnswer": { "@type": "Answer", "text": "Oui, le stress chronique peut perturber l'équilibre hormonal et aggraver les troubles." } }, { "@type": "Question", "name": "Les infections peuvent-elles être un facteur de risque ?", "position": 28, "acceptedAnswer": { "@type": "Answer", "text": "Oui, certaines infections sexuellement transmissibles peuvent affecter la fonction gonadique." } }, { "@type": "Question", "name": "L'exposition à des toxines est-elle préoccupante ?", "position": 29, "acceptedAnswer": { "@type": "Answer", "text": "Oui, l'exposition à des produits chimiques et toxines peut nuire à la santé gonadique." } }, { "@type": "Question", "name": "Les habitudes alimentaires influencent-elles le risque ?", "position": 30, "acceptedAnswer": { "@type": "Answer", "text": "Oui, une mauvaise alimentation peut contribuer à des déséquilibres hormonaux et à des troubles." } } ] } ] }
Dr Olivier Menir

Contenu validé par Dr Olivier Menir

Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale


Validation scientifique effectuée le 10/02/2025

Contenu vérifié selon les dernières recommandations médicales

Sous-catégories

47 au total
└─

Troubles du développement sexuel

Disorders of Sex Development D012734 - C19.391.119
└─

Hypogonadisme

Hypogonadism D007006 - C19.391.482
└─

Maladies ovariennes

Ovarian Diseases D010049 - C19.391.630
└─

Retard pubertaire

Puberty, Delayed D011628 - C19.391.690
└─

Puberté précoce

Puberty, Precocious D011629 - C19.391.693
└─

Maladies testiculaires

Testicular Diseases D013733 - C19.391.829
└─└─

Troubles du développement sexuel de sujets 46, XX

46, XX Disorders of Sex Development D058489 - C19.391.119.064
└─└─

Syndrome génitosurrénal

Adrenogenital Syndrome D047808 - C19.391.119.090
└─└─

Troubles du développement sexuel de sujets 46, XY

Disorder of Sex Development, 46,XY D058490 - C19.391.119.096
└─└─

Dysgénésie gonadique

Gonadal Dysgenesis D006059 - C19.391.119.309
└─└─

Troubles ovotesticulaires du développement sexuel

Ovotesticular Disorders of Sex Development D050090 - C19.391.119.343
└─└─

Troubles du développement sexuel avec anomalie des gonosomes

Sex Chromosome Disorders of Sex Development D058533 - C19.391.119.795
└─└─

Eunuchisme

Eunuchism D005058 - C19.391.482.293
└─└─

Syndrome de Kallmann

Kallmann Syndrome D017436 - C19.391.482.600
└─└─

Syndrome de Klinefelter

Klinefelter Syndrome D007713 - C19.391.482.629
└─└─

Infantilisme sexuel

Sexual Infantilism D050035 - C19.391.482.814
└─└─

Ovarite

Oophoritis D009869 - C19.391.630.450
└─└─

Kystes de l'ovaire

Ovarian Cysts D010048 - C19.391.630.580
└─└─

Syndrome d'hyperstimulation ovarienne

Ovarian Hyperstimulation Syndrome D016471 - C19.391.630.642
└─└─

Tumeurs de l'ovaire

Ovarian Neoplasms D010051 - C19.391.630.705
└─└─

Insuffisance ovarienne primitive

Primary Ovarian Insufficiency D016649 - C19.391.630.750
└─└─

Cryptorchidie

Cryptorchidism D003456 - C19.391.829.258
└─└─

Orchite

Orchitis D009920 - C19.391.829.493
└─└─

Tumeurs du testicule

Testicular Neoplasms D013736 - C19.391.829.782
└─└─└─

Syndrome du mâle XX

46, XX Testicular Disorders of Sex Development D058531 - C19.391.119.064.124
└─└─└─

Hyperplasie congénitale des surrénales

Adrenal Hyperplasia, Congenital D000312 - C19.391.119.090.500
└─└─└─

Hyperandrogénie

Hyperandrogenism D017588 - C19.391.119.090.750
└─└─└─

Syndrome d'insensibilité aux androgènes

Androgen-Insensitivity Syndrome D013734 - C19.391.119.096.500
└─└─└─

Syndrome de Denys-Drash

Denys-Drash Syndrome D030321 - C19.391.119.096.562
└─└─└─

Syndrome WAGR

WAGR Syndrome D017624 - C19.391.119.096.875
└─└─└─

Dysgénésie gonadique 46, XX

Gonadal Dysgenesis, 46,XX D023961 - C19.391.119.309.193
└─└─└─

Dysgénésie gonadique 46, XY

Gonadal Dysgenesis, 46,XY D006061 - C19.391.119.309.388
└─└─└─

Dysgénésie gonadique mixte

Gonadal Dysgenesis, Mixed D006060 - C19.391.119.795.249
└─└─└─

Syndrome de Turner

Turner Syndrome D014424 - C19.391.119.795.750
└─└─└─

Syndrome des ovaires polykystiques

Polycystic Ovary Syndrome D011085 - C19.391.630.580.765
└─└─└─

Tumeur de Brenner

Brenner Tumor D001948 - C19.391.630.705.265
└─└─└─

Carcinome endométrioïde

Carcinoma, Endometrioid D018269 - C19.391.630.705.331
└─└─└─

Carcinome épithélial de l'ovaire

Carcinoma, Ovarian Epithelial D000077216 - C19.391.630.705.350
└─└─└─

Tumeur de la granulosa

Granulosa Cell Tumor D006106 - C19.391.630.705.398
└─└─└─

Syndrome héréditaire de cancer du sein et de l'ovaire

Hereditary Breast and Ovarian Cancer Syndrome D061325 - C19.391.630.705.431
└─└─└─

Lutéome

Luteoma D018311 - C19.391.630.705.464
└─└─└─

Syndrome de Meigs

Meigs Syndrome D008539 - C19.391.630.705.531
└─└─└─

Thécome

Thecoma D013798 - C19.391.630.705.765
└─└─└─

Tumeur à cellules de Sertoli et de Leydig

Sertoli-Leydig Cell Tumor D018310 - C19.391.829.782.500
└─└─└─└─

Gonadoblastome

Gonadoblastoma D018238 - C19.391.119.309.388.500
└─└─└─└─

Tumeur à cellules de Leydig

Leydig Cell Tumor D007984 - C19.391.829.782.500.249
└─└─└─└─

Tumeur à cellules de Sertoli

Sertoli Cell Tumor D012707 - C19.391.829.782.500.500

Auteurs principaux

Nitzan Gonen

2 publications dans cette catégorie

Affiliations :
  • The Mina and Everard Goodman Faculty of Life Sciences and the Institute of Nanotechnology and Advanced Materials, Bar-Ilan University, Ramat Gan 5290002, Israel.
  • The Francis Crick Institute, 1 Midland Road, London NW1 1AT, UK.
Publications dans "Troubles gonadiques" :

Maëva Elzaiat

2 publications dans cette catégorie

Affiliations :
  • Institut Pasteur, Université de Paris, CNRS UMR3738, Human Developmental Genetics, F-75015 Paris, France.
Publications dans "Troubles gonadiques" :

Isabelle Stévant

2 publications dans cette catégorie

Affiliations :
  • The Mina and Everard Goodman Faculty of Life Sciences and the Institute of Nanotechnology and Advanced Materials, Bar-Ilan University, Ramat Gan 5290002, Israel.
Publications dans "Troubles gonadiques" :

Robin Lovell-Badge

2 publications dans cette catégorie

Affiliations :
  • The Francis Crick Institute, 1 Midland Road, London NW1 1AT, UK.
Publications dans "Troubles gonadiques" :

Anu Bashamboo

2 publications dans cette catégorie

Affiliations :
  • Institut Pasteur, Université de Paris, CNRS UMR3738, Human Developmental Genetics, F-75015 Paris, France.
Publications dans "Troubles gonadiques" :

Ching-Shu Tsai

2 publications dans cette catégorie

Affiliations :
  • Department of Child and Adolescent Psychiatry, Kaohsiung Chang Gung Memorial Hospital and Chang Gung University College of Medicine, Kaohsiung 833401, Taiwan.

Wen-Jiun Chou

2 publications dans cette catégorie

Affiliations :
  • Department of Child and Adolescent Psychiatry, Kaohsiung Chang Gung Memorial Hospital and Chang Gung University College of Medicine, Kaohsiung 833401, Taiwan.

Sheng-Yu Lee

2 publications dans cette catégorie

Affiliations :
  • Department of Psychiatry, Kaohsiung Veterans General Hospital, Kaohsiung 813414, Taiwan.
  • Department of Psychiatry, College of Medicine, Graduate Institute of Medicine, School of Medicine, Kaohsiung Medical University, Kaohsiung 807378, Taiwan.

Min-Jing Lee

2 publications dans cette catégorie

Affiliations :
  • Department of Child and Adolescent Psychiatry, Chia-Yi Chang Gung Memorial Hospital, Chia-Yi City 613016, Taiwan.

Miao-Chun Chou

2 publications dans cette catégorie

Affiliations :
  • Department of Child and Adolescent Psychiatry, Kaohsiung Chang Gung Memorial Hospital and Chang Gung University College of Medicine, Kaohsiung 833401, Taiwan.

Liang-Jen Wang

2 publications dans cette catégorie

Affiliations :
  • Department of Child and Adolescent Psychiatry, Kaohsiung Chang Gung Memorial Hospital and Chang Gung University College of Medicine, Kaohsiung 833401, Taiwan.

Izabela Rams-Pociecha

2 publications dans cette catégorie

Affiliations :
  • Department of Comparative Anatomy, Institute of Zoology and Biomedical Research, Jagiellonian University, 30-387 Krakow, Poland.
  • Doctoral School of Exact and Natural Sciences, Jagiellonian University, 30-348 Krakow, Poland.

Paulina C Mizia

2 publications dans cette catégorie

Affiliations :
  • Department of Comparative Anatomy, Institute of Zoology and Biomedical Research, Jagiellonian University, 30-387 Krakow, Poland.
  • Doctoral School of Exact and Natural Sciences, Jagiellonian University, 30-348 Krakow, Poland.

Rafal P Piprek

2 publications dans cette catégorie

Affiliations :
  • Department of Comparative Anatomy, Institute of Zoology and Biomedical Research, Jagiellonian University, 30-387 Krakow, Poland.

Xiang Wang

2 publications dans cette catégorie

Affiliations :
  • Center for Translational Medicine, The First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, Shaanxi, China; Key Laboratory for Tumor Precision Medicine of Shaanxi Province, The First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, Shaanxi, China.

Mariana Costanzo

1 publication dans cette catégorie

Affiliations :
  • Servicio de Endocrinología, Hospital de Pediatría 'Prof. Dr. Juan Pedro Garrahan', Buenos Aires, Argentina.
Publications dans "Troubles gonadiques" :

María Sol Touzon

1 publication dans cette catégorie

Affiliations :
  • Servicio de Endocrinología, Hospital de Pediatría 'Prof. Dr. Juan Pedro Garrahan', Buenos Aires, Argentina.
  • Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET), Buenos Aires, Argentina.
Publications dans "Troubles gonadiques" :

Roxana Marino

1 publication dans cette catégorie

Affiliations :
  • Servicio de Endocrinología, Hospital de Pediatría 'Prof. Dr. Juan Pedro Garrahan', Buenos Aires, Argentina.
Publications dans "Troubles gonadiques" :

Gabriela Guercio

1 publication dans cette catégorie

Affiliations :
  • Servicio de Endocrinología, Hospital de Pediatría 'Prof. Dr. Juan Pedro Garrahan', Buenos Aires, Argentina.
  • Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET), Buenos Aires, Argentina.
Publications dans "Troubles gonadiques" :

Pablo Ramirez

1 publication dans cette catégorie

Affiliations :
  • Servicio de Endocrinología, Hospital de Pediatría 'Prof. Dr. Juan Pedro Garrahan', Buenos Aires, Argentina.
Publications dans "Troubles gonadiques" :

Sources (10000 au total)

Disorders of sex development: Challenges in a low-resource country.

We aimed to identify the challenges in the management of sexual development abnormalities in a low-resource country.... The study was retrospective from January 2000 to December 2017 based on patient records from two pediatric surgery departments. Epidemiological, clinical, paraclinical, treatment, and outcome data wer... We collected data on 13 patients (average age = 7.95 years). The sex of rearing was as follows: three females (23%), 10 males (77%). Atypical genitalia other than hypospadias represented the reason fo... The socioeconomic difficulties of the population and the lack of access to basic diagnostic and paraclinical methods, coupled with the negative cultural representations of the pathology, constitute th...

Enlarged prostatic utricle and vagina masculinus in boys with disorders of sex development.

To determine the prevalence, radiological characteristics, and clinical symptomatology of enlarged prostatic utricles and vagina masculinus in boys with disorders of sex development.... Over 10 years (from February 2012 to March 2022), 102 boys with severe hypospadias underwent voiding cystourethrography. All patients presented with disorders of sex development and Y material in the ... Voiding cystourethrography revealed the presence of a cyst posterior to the urethra in 66 patients (64.7% of cases). There were 15 cases of "vagina masculinus" and 51 of enlarged prostatic utricles. T... This study shows that the prevalence of enlarged prostatic utricles and vagina masculinus is high in patients with severe hypospadias. Therefore, their search should be systematic, and for clinical an...

Delivery of multidisciplinary care in the field of differences and disorders of sex development (DSD).

Differences and disorders of sex development (DSD) are a diverse group of conditions, which often present in early childhood and may require input from a group of experts in a wide range of clinical f... This review will focus on the benefits of multidisciplinary care for people with DSD, as well as the challenges that may be faced.... Core members of the MDT for people with DSD include endocrinologists, surgeons, psychologists, geneticists, specialist nurses, radiologists, and gynecologists, although many other health-care professi...

Can Non-Coding NR5A1 Gene Variants Explain Phenotypes of Disorders of Sex Development?

NR5A1 is an essential transcription factor that regulates several target genes involved in reproduction and endocrine function. Pathogenic variants in this gene are responsible for a wide spectrum of ... The molecular study involved Sanger sequencing, in vitro assays, and whole exome sequencing (WES).... Four variants were identified within the NR5A1 non-coding region in 3 patients with 46,XY DSD. In vitro analyses showed that promoter activity was affected in all cases. WES revealed variants in SRA1,... Evaluation of clinical and phenotypic significance of variants located in a non-coding region of a gene can be complex, and little is known regarding their association with DSD. Nevertheless, based on...

Phenotype and genetic characteristics in 20 Chinese patients with 46,XY disorders of sex development.

46,XY disorders of sex development (DSD) is the most complicated and common type of DSD. To date, more than 30 genes have been identified associated with 46,XY DSD. However, the mutation spectrum of 4... A total of 20 unrelated individuals with 46,XY DSD were recruited. Whole-exome sequencing (WES) or custom-panel sequencing combined Sanger sequencing were performed to detect the pathogenic mutations.... Six patients harbored NR5A1 mutations; two patients harbored NR0B1 mutations; six patients harbored SRD5A2 mutations; six patients harbored AR mutations. Six novel genetic variants were identified inv... We determined the genetic etiology for all enrolled patients. Our study expanded the mutation spectrum of 46,XY DSD and provided diagnostic evidence for patients with the same mutation in the future....

Management of Gender Determination of Newborns and Children with Disorders of Sex Development Using a Multidisciplinary Approach: An Exploratory Study of Islamic Perspective in Malaysia.

Management of newborns with disorders of sex development (DSD), especially in deciding the need for a sex assignment surgery, is a complex matter. It is associated with many bioethical issues, such as...

Are NR5A1 Variations a Frequent Cause of 46,XX Ovotesticular Disorders of Sex Development? Analysis from a Single Center and Systematic Review.

Ovotesticular disorder of sex development (OT-DSD) is a rare condition defined by concomitance of testicular tissue and ovarian tissue (containing follicles) in the same individual. In SRY-negative 46... Sanger sequencing of NR5A1 was performed in seven SRY-negative 46,XX OT-DSD patients: five simplex cases and two with another sibling with a 46,XX DSD. Systematic review of original studies on NR5A1 s... Sanger sequencing of NR5A1 did not reveal pathogenic variants among our patients. Our cohort was included in this systematic review with seven other articles, totalizing fifty-six 46,XX OT-DSD patient... The etiology of most 46,XX OT-DSD cases remains elusive, highlighting the importance of a deeper molecular investigation....