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Related Concept Videos

Glucose Transporters01:27

Glucose Transporters

Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
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Oogenesis02:07

Oogenesis

In human women, oogenesis produces one mature egg cell or ovum for every precursor cell that enters meiosis. This process differs in two unique ways from the equivalent procedure of spermatogenesis in males. First, meiotic divisions during oogenesis are asymmetric, meaning that a large oocyte (containing most of the cytoplasm) and minor polar body are produced as a result of meiosis I, and again following meiosis II. Since only oocytes will go on to form embryos if fertilized, this unequal...
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
Glucose Homeostasis: Regulation of Blood Glucose01:02

Glucose Homeostasis: Regulation of Blood Glucose

Carbohydrates consumed through foods are converted into glucose, a crucial energy source for the body. In the prandial state, high blood glucose levels stimulate the secretion of insulin from the pancreas. Insulin inhibits hepatic glucose production and stimulates glucose uptake and metabolism by muscle and adipose tissue. The excess glucose is converted into glycogen and stored in the liver and muscles.
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Diabetes Mellitus: Type 2 and Gestational01:22

Diabetes Mellitus: Type 2 and Gestational

Type 2 diabetes, characterized by insulin resistance, arises when the insulin receptors on cells lose responsiveness to insulin, diminishing the cell's capacity to take up glucose, resulting in elevated blood glucose levels. To receive a diagnosis of Type 2 diabetes, a series of blood glucose tests are necessary to assess whether the blood glucose falls within normal parameters. If the result is out of the normal range, a patient may be diagnosed as prediabetic or diabetic, depending on the...
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Hormones Regulating Blood Glucose

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Evaluation of Hepatic Glucose Production in a Polycystic Ovary Syndrome Mouse Model
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Published on: March 5, 2022

Ovarian function in Duarte galactosemia.

Jennifer R Badik1, Uriel Castañeda, Tyler J Gleason

  • 1Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, Emory University School of Medicine, Atlanta, Georgia, USA.

Fertility and Sterility
|July 2, 2011
PubMed
Summary
This summary is machine-generated.

Girls with Duarte variant galactosemia (DG) do not show increased risk for premature ovarian insufficiency. Prepubertal anti-Müllerian hormone (AMH) and FSH levels were normal in DG girls, unlike those with classic galactosemia (GG).

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Area of Science:

  • Endocrinology
  • Reproductive Health
  • Genetics

Background:

  • Galactosemia is an inherited metabolic disorder affecting galactose metabolism.
  • Classic galactosemia (GG) is associated with ovarian insufficiency, but the risk for Duarte variant galactosemia (DG) is less understood.
  • Premature ovarian insufficiency (POI) is a significant concern for girls with galactosemia.

Purpose of the Study:

  • To investigate the risk of premature ovarian insufficiency (POI) in girls with Duarte variant galactosemia (DG).
  • To assess prepubertal anti-Müllerian hormone (AMH) and follicle-stimulating hormone (FSH) levels in girls with DG compared to controls and girls with classic galactosemia (GG).

Main Methods:

  • Cross-sectional study conducted in a university research laboratory.
  • Inclusion of 57 girls with DG, 89 girls with GG, and 64 control girls (age <1 month to 10.5 years).
  • Blood sampling to determine AMH and FSH levels.

Main Results:

  • Girls with classic galactosemia (GG) exhibited significantly higher FSH and lower AMH levels compared to controls.
  • No significant differences in FSH or AMH levels were observed between girls with Duarte variant galactosemia (DG) and control girls.
  • Over 80% of girls with GG showed low or undetectable AMH, indicating diminished ovarian reserve.

Conclusions:

  • Girls with Duarte variant galactosemia (DG) do not appear to be at increased risk for premature ovarian insufficiency.
  • Normal AMH and FSH levels in prepubertal girls with DG suggest preserved ovarian function.
  • Findings differentiate the reproductive risks associated with DG versus GG, highlighting the need for specific monitoring.