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GlossaryKaryotype

visual display of an individual's chromosome pairs

A karyotype is a visual representation of an individual's complete set of chromosomes, arranged in pairs and ordered by size. It is used to detect genetic abnormalities, such as extra or missing chromosomes, which can be linked to conditions like Down syndrome or certain types of alopecia.

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research Current Evaluation of Amenorrhea

38 citations, October 2006 in “Fertility and Sterility”

The document concludes that identifying the cause of amenorrhea is crucial for proper treatment.

research Induced Pluripotent Stem Cell Line MUSIi006-A Derived from Hair Follicle Keratinocytes as a Non-Invasive Somatic Cell Source

7 citations, July 2018 in “Stem cell research”

Hair samples can be used to create stem cells easily and non-invasively.

research Endocrine Abnormalities in Ring Chromosome 11: A Case Report and Review of the Literature

3 citations, November 2015 in “Endocrinology, Diabetes & Metabolism Case Reports”

Ring Chromosome 11 may be linked to conditions like early puberty, excessive hair growth, hair loss, and type 2 diabetes.

research A Novel NR5A1 Gene Mutation Causing 46, XY DSD Without Adrenal Insufficiency in an Immigrant Boy from Dominican Republic

November 2022 in “Journal of the Endocrine Society”

A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.

research Late Diagnosis of Complete Androgen Insensitivity

April 2019 in “Journal of the Endocrine Society”

A 31-year-old woman was diagnosed with Complete Androgen Insensitivity Syndrome much later than usual, leading to a call for earlier detection and treatment guidelines.

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