Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Incomplete gonadal dysgenesis

F J Sheth1, A S Multani, J J Sheth

  • 1Genetic Centre, Ahmedabad, India.

Urologia Internationalis
|January 1, 1996
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Methylated miRNAs may serve as potential biomarkers and therapeutic targets for hidradenitis suppurativa.

Journal of the European Academy of Dermatology and Venereology : JEADV·2022
Same author

Artificial neural networks allow response prediction in squamous cell carcinoma of the scalp treated with radiotherapy.

Journal of the European Academy of Dermatology and Venereology : JEADV·2020
Same author

Placental DNA methylation changes in detection of tetralogy of Fallot.

Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology·2019
Same author

Linking genomic reorganization to tumor initiation via the giant cell cycle.

Oncogenesis·2016
Same author

Mdm2 overexpression and p73 loss exacerbate genomic instability and dampen apoptosis, resulting in B-cell lymphoma.

Oncogene·2015
Same author

A comparative study of efficacy and safety of azithromycin and ofloxacin in uncomplicated typhoid Fever: a randomised, open labelled study.

Journal of clinical and diagnostic research : JCDR·2013

This study details a 46,XY individual with ambiguous genitalia, revealing internal female reproductive structures and a non-functional testis. Findings suggest hormonal dysgenesis impacting male sex development.

Area of Science:

  • Reproductive Endocrinology
  • Human Genetics
  • Developmental Biology

Background:

  • Ambiguous genitalia presents a diagnostic challenge in newborns.
  • Understanding genetic and hormonal factors is crucial for sex development.

Observation:

  • A 21-year-old phenotypic male with ambiguous genitalia and hypospadias was evaluated.
  • Internal examination revealed a uterus, bilateral fallopian tubes, and a left-sided cryptorchid testis; no right gonad was found.

Findings:

  • Cytogenetic analysis confirmed a 46,XY karyotype without mosaicism.
  • Endocrine tests showed elevated Follicle-Stimulating Hormone (FSH) and Luteinizing Hormone (LH), borderline low testosterone, and lack of response to Human Chorionic Gonadotropin (HCG) stimulation.

Implications:

Related Experiment Videos

  • The findings suggest Sertoli cell dysfunction, indicated by the presence of fallopian tubes, and Leydig cell insufficiency, evidenced by absent Wolffian duct derivatives.
  • This case highlights the complex interplay of genetic and hormonal factors in 46,XY disorders of sex development.