questionsmedicales.fr
Maladies endocriniennes
Troubles gonadiques
Troubles gonadiques : Questions médicales fréquentes
Termes MeSH sélectionnés :
Disorders of Sex Development
Diagnostic
5
Troubles gonadiques
Tests hormonaux
Testostérone
Hormones sexuelles
Échographie
Imagerie par résonance magnétique
Infertilité
Irrégularités menstruelles
Antécédents médicaux
Évaluation clinique
Symptômes
5
Fatigue
Dysfonction érectile
Libido
Déséquilibres hormonaux
Troubles menstruels
Dysfonction gonadique
Troubles de l'humeur
Anxiété
Prévention
5
Mode de vie sain
Gestion du stress
Alimentation équilibrée
Santé reproductive
Exercice physique
Régulation hormonale
Examens médicaux
Détection précoce
Traitements
5
Thérapie hormonale
Chirurgie
Thérapie hormonale
Restauration hormonale
Chirurgie
Tumeurs gonadiques
Médecine personnalisée
Causes sous-jacentes
Effets secondaires
Nausées
Complications
5
Infertilité
Maladies cardiovasculaires
Cancer
Risques oncologiques
Santé mentale
Estime de soi
Réversibilité
Traitement précoce
Qualité de vie
Symptômes émotionnels
Facteurs de risque
5
Stress
Équilibre hormonal
Infections sexuellement transmissibles
Fonction gonadique
Toxines
Produits chimiques
Habitudes alimentaires
Déséquilibres hormonaux
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"name": "Diagnostic",
"headline": "Diagnostic sur Troubles gonadiques",
"description": "Comment diagnostiquer un trouble gonadique ?\nQuels tests sont utilisés pour évaluer la fonction gonadique ?\nLes imageries sont-elles nécessaires pour le diagnostic ?\nQuels signes cliniques indiquent un trouble gonadique ?\nLes antécédents médicaux sont-ils importants ?",
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"headline": "Symptômes sur Troubles gonadiques",
"description": "Quels sont les symptômes courants des troubles gonadiques ?\nComment les troubles gonadiques affectent-ils la libido ?\nLes troubles menstruels sont-ils liés aux troubles gonadiques ?\nPeut-on observer des changements physiques ?\nLes troubles de l'humeur sont-ils fréquents ?",
"url": "https://questionsmedicales.fr/mesh/D006058?mesh_terms=Disorders+of+Sex+Development#section-symptômes"
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"name": "Prévention",
"headline": "Prévention sur Troubles gonadiques",
"description": "Comment prévenir les troubles gonadiques ?\nL'alimentation joue-t-elle un rôle ?\nLe tabagisme influence-t-il la santé gonadique ?\nL'exercice physique est-il bénéfique ?\nLes examens médicaux réguliers sont-ils importants ?",
"url": "https://questionsmedicales.fr/mesh/D006058?mesh_terms=Disorders+of+Sex+Development#section-prévention"
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"name": "Traitements",
"headline": "Traitements sur Troubles gonadiques",
"description": "Quels traitements sont disponibles pour les troubles gonadiques ?\nLa thérapie hormonale est-elle efficace ?\nQuand la chirurgie est-elle nécessaire ?\nLes traitements sont-ils personnalisés ?\nY a-t-il des effets secondaires aux traitements ?",
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"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 ?",
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"@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."
}
}
]
}
]
}
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
└─
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
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" :
2 publications dans cette catégorie
Affiliations :
Institut Pasteur, Université de Paris, CNRS UMR3738, Human Developmental Genetics, F-75015 Paris, France.
Publications dans "Troubles gonadiques" :
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" :
2 publications dans cette catégorie
Affiliations :
The Francis Crick Institute, 1 Midland Road, London NW1 1AT, UK.
Publications dans "Troubles gonadiques" :
2 publications dans cette catégorie
Affiliations :
Institut Pasteur, Université de Paris, CNRS UMR3738, Human Developmental Genetics, F-75015 Paris, France.
Publications dans "Troubles gonadiques" :
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.
Publications dans "Troubles gonadiques" :
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.
Publications dans "Troubles gonadiques" :
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.
Publications dans "Troubles gonadiques" :
2 publications dans cette catégorie
Affiliations :
Department of Child and Adolescent Psychiatry, Chia-Yi Chang Gung Memorial Hospital, Chia-Yi City 613016, Taiwan.
Publications dans "Troubles gonadiques" :
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.
Publications dans "Troubles gonadiques" :
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.
Publications dans "Troubles gonadiques" :
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.
Publications dans "Troubles gonadiques" :
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.
Publications dans "Troubles gonadiques" :
2 publications dans cette catégorie
Affiliations :
Department of Comparative Anatomy, Institute of Zoology and Biomedical Research, Jagiellonian University, 30-387 Krakow, Poland.
Publications dans "Troubles gonadiques" :
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.
Publications dans "Troubles gonadiques" :
1 publication dans cette catégorie
Affiliations :
Servicio de Endocrinología, Hospital de Pediatría 'Prof. Dr. Juan Pedro Garrahan', Buenos Aires, Argentina.
Publications dans "Troubles gonadiques" :
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" :
1 publication dans cette catégorie
Affiliations :
Servicio de Endocrinología, Hospital de Pediatría 'Prof. Dr. Juan Pedro Garrahan', Buenos Aires, Argentina.
Publications dans "Troubles gonadiques" :
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" :
1 publication dans cette catégorie
Affiliations :
Servicio de Endocrinología, Hospital de Pediatría 'Prof. Dr. Juan Pedro Garrahan', Buenos Aires, Argentina.
Publications dans "Troubles gonadiques" :
Disorders of sex development (DSD) is a broad term for congenital conditions with a discrepancy in chromosomal, gonadal, or anatomic sex. Pediatricians are often faced with the challenge of managing a...
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...
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...
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...
Prenatal-onset androgen excess leads to abnormal sexual development in 46,XX individuals. This androgen excess can be caused endogenously by the adrenals or gonads or by exposure to exogenous androgen...
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...
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 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...
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....
Sex development relies on the sex-specific action of gene networks to differentiate the bipotential gonads of the growing fetus into testis or ovaries, followed by the differentiation of internal and ...