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Related Concept Videos

Sex-linked Disorders01:43

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
Nondisjunction01:29

Nondisjunction

During meiosis, chromosomes occasionally separate improperly. This occurs due to failure of homologous chromosome separation during meiosis I or failed sister chromatid separation during meiosis II. In some species, notably plants, nondisjunction can result in an organism with an entire additional set of chromosomes, which is called polyploidy. In humans, nondisjunction can occur during male or female gametogenesis and the resulting gametes possess one too many or one too few chromosomes.
The Ratio of X Chromosome to Autosomes02:45

The Ratio of X Chromosome to Autosomes

In most organisms, sex is determined by the ratio of X and Y chromosomes. However, in some organisms, such as Drosophila and C.elegans, sex is determined by the ratio of the number of X chromosomes to the number of sets of autosomes. The Y chromosome in Drosophila is active but does not determine sex. It contains genes responsible for the production of sperms in adult flies.  
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External Female Genitals

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Entamoeba histolytica, a protozoan parasite, is responsible for intestinal and extraintestinal amebiasis. Though a significant proportion of infections remain asymptomatic, approximately 50 million individuals annually are estimated to present with clinical disease, resulting in up to 100,000 deaths globally. The disease burden is disproportionately high in regions with lower socioeconomic status, such as parts of India, Africa, Mexico, and Latin America.Etiology and TransmissionThe infective...

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Mutagenesis and Analysis of Genetic Mutations in the GC-rich KISS1 Receptor Sequence Identified in Humans with Reproductive Disorders
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Ambiguous genitalia: A rare case report.

Padam Kumari Agarwal1, Mustafa Ali, Ritu Ranjan

  • 1Department of Pathology, Vivekananda Polyclinic and Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.

Indian Journal of Pathology & Microbiology
|March 11, 2016
PubMed
Summary
This summary is machine-generated.

Mixed gonadal dysgenesis (MGD), a rare disorder of sexual development, presented in a 7-year-old with ambiguous genitalia and a 46, XY/45, XO genotype. Surgical intervention and rehabilitation allowed the child to live as a girl.

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Area of Science:

  • Pediatric Surgery
  • Endocrinology
  • Genetics

Background:

  • Mixed gonadal dysgenesis (MGD) is a rare disorder of sexual development (DSD) characterized by gonadal abnormalities.
  • This case involves a 7-year-old child presenting with ambiguous genitalia, including a vagina and an enlarged clitoris.

Observation:

  • Pelvic ultrasound revealed a streak ovary on the right and an ovotestis on the left.
  • Karyotyping confirmed a mixed gonadal dysgenesis with a 46, XY/45, XO genotype.
  • The child lacked a visualized uterus.

Findings:

  • Surgical intervention included laparoscopic gonadectomy, vaginoplasty, and clitoral reduction.
  • Histopathology confirmed an ovotestis with ovarian and testicular components, including Graafian follicles, Leydig cells, and Sertoli cells.
  • The presence of mature follicular and testicular elements at this age is noteworthy.

Implications:

  • This case highlights the complex presentation and management of mixed gonadal dysgenesis.
  • Successful surgical and rehabilitative outcomes are crucial for affected individuals.
  • Further research into the developmental biology of DSDs is warranted.