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Related Concept Videos

Oogenesis01:22

Oogenesis

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Oogenesis,  the process of developing egg cells (female gametes), occurs within the ovaries and is fundamental to female fertility. This sequence begins during fetal development when diploid oogonia in the developing ovaries undergo mitotic divisions to produce primary oocytes. By birth, these primary oocytes enter prophase I of meiosis but become arrested in this stage, remaining suspended until puberty.
Each primary oocyte is surrounded by a layer of pre-granulosa cells, forming what is...
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Hormonal Control of the Ovarian Cycle01:30

Hormonal Control of the Ovarian Cycle

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The ovarian cycle is meticulously regulated by the hypothalamic-pituitary-gonadal axis. This cycle orchestrates the release of a mature oocyte, essential for reproduction.
Before puberty, the hypothalamus releases GnRH in a low frequency, low amplitude pulsatile manner. This along with the immature hypothalamic-pituitary-gonadal axis activity, results in low estrogen levels and the absence of a fully functional ovarian cycle.  At puberty, GnRH secretion increases in both frequency and...
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Ovarian Cycle01:27

Ovarian Cycle

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The menstrual cycle includes a critical component known as the ovarian cycle, which undergoes two main phases each month—the follicular phase and the luteal phase. The follicular phase is variable and averaging around 14 days. Ovulation, triggered by a surge in luteinizing hormone (LH), marks the transition between the two phases. The second phase, the luteal phase, is relatively consistent, lasting approximately 14 days, and is marked by the activity of the corpus luteum. While a cycle...
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Ovaries01:26

Ovaries

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The ovaries are roughly the size of almonds and measure approximately 2 to 3 centimeters in length. These paired structures are situated within the pelvic region and are anchored by the mesovarium—a peritoneal extension that also connects them to the wider structure of the broad ligament. The support system extends to the suspensory ligament, housing blood and lymphatic vessels. In addition, the ovarian ligament tethers the ovaries to the uterus.
On the ovarian surface, a layer of...
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Folliculogenesis01:20

Folliculogenesis

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Folliculogenesis is the development of ovarian follicles, the specialized structures within the ovarian cortex where oogenesis, or egg development, occurs. This process is essential for female reproductive health and begins during fetal development when primordial follicles are formed. Each primordial follicle comprises a primary oocyte in the center, surrounded by a single layer of squamous pre-granulosa cells. These follicles remain dormant in late prophase I of meiosis until triggered by...
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Gonadal and Placental Hormones01:24

Gonadal and Placental Hormones

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The gonads, namely the testes in males and the ovaries in females, are pivotal in producing gonadal hormones that orchestrate the intricate processes of sexual development and reproduction.
In males, testosterone is the primary gonadal androgen. It plays a central role in the maturation of male reproductive organs — the penis and testes. Additionally, testosterone is instrumental in the development of secondary sexual characteristics — a deep voice as well as facial and pubic hair...
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Analysis of Chromosome Segregation, Histone Acetylation, and Spindle Morphology in Horse Oocytes
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FOXL2: a gene central to ovarian function.

Aysha Mubeen1, Carlos Parra-Herran2

  • 1Department of Pathology, University of New Mexico Health Sciences Center, Albuquerque, New Mexico, USA amubeen@salud.unm.edu.

Journal of Clinical Pathology
|October 5, 2023
PubMed
Summary

The forkhead box L2 (FOXL2) gene is crucial for biological processes and its mutations are linked to specific syndromes. FOXL2 protein is a key marker for ovarian granulosa cell tumors and other sex cord-stromal tumors.

Keywords:
Eye DiseasesGenes, NeoplasmOVARYPituitary Diseases

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Area of Science:

  • Genetics
  • Molecular Biology
  • Oncology

Background:

  • The forkhead box L2 (FOXL2) gene, located on chromosome 3, encodes transcription factors vital for numerous biological functions.
  • Germline FOXL2 mutations are associated with blepharophimosis/ptosis/epicanthus inversus syndrome.
  • A specific somatic mutation, FOXL2 C134W, is a hallmark of adult-type granulosa cell tumors of the ovary, found in over 90% of cases.

Purpose of the Study:

  • To highlight the significance of FOXL2 in both genetic disorders and ovarian tumors.
  • To emphasize the role of FOXL2 immunohistochemistry as a marker for sex cord-stromal differentiation.
  • To clarify the diagnostic utility and limitations of FOXL2 expression in various proliferative lesions.

Main Methods:

  • Gene sequencing to identify FOXL2 mutations.
  • Immunohistochemistry to detect FOXL2 protein expression.
  • Analysis of FOXL2 expression patterns in different tumor types.

Main Results:

  • The FOXL2 C134W mutation is a defining molecular feature of adult-type granulosa cell tumors.
  • FOXL2 immunohistochemistry serves as a reliable marker for sex cord-stromal differentiation.
  • FOXL2 expression is observed in various sex cord-stromal proliferations beyond adult-type granulosa cell tumors.

Conclusions:

  • FOXL2 plays a critical role in ovarian tumor development and serves as an important diagnostic marker.
  • Immunohistochemical detection of FOXL2 is valuable for identifying sex cord-stromal tumors, though not exclusively limited to those with FOXL2 mutations.