GC: n

S: TSF – https://turnersyndromefoundation.org/what_is_turner_syndrome/ (last access: 15 December 2024); NIH – https://www.genome.gov/Genetic-Disorders/Turner-SyndromeSyndrome (last access: 15 December 2024).

N: 1. Eponym created from the surname Turner. Henry Hubert Turner (1892-1970) was an American physician.

– Turner (pn): Henry Hubert Turner (1892-1970) was a physician and researcher who studied hormones and human development in Oklahoma City, Oklahoma, during the twentieth century. He was one of the first people to classify Turner syndrome, which is a genetic condition that occurs when someone has a specific atypical chromosomal pattern, and as of 2024, affects one in 1,500 to 2,500 female births.

– syndrome (n): “a number of symptoms occurring together,” 1540s, from medical Latin, from Greek syndrome “concurrence of symptoms, concourse of people,” from syndromos “place where several roads meet,” literally “a running together,” from syn- “with” (see syn-) + dromos “a running, course” (see dromedary). Psychological sense is from 1955.

2. A genetically determined condition that is typically associated with the presence of only one complete X chromosome and no Y chromosome and is characterized especially by a female phenotype with underdeveloped and usually infertile ovaries and short stature

3. Also known as: Turner’s syndrome, gonadal dysgenesis.

• Turner syndrome, relatively uncommon sex-chromosome disorder that causes aberrant sexual development in human females. Turner syndrome occurs when one sex chromosome is deleted, so that instead of the normal 46 chromosomes, of which two are sex chromosomes (XX in females and XY in males), the chromosomal complement is 45,X. In genetic terms, these patients are neither male nor female because the second, sex-determining chromosome is absent. However, phenotypically, affected individuals develop as females because there is no Y chromosome to direct the fetal gonads to the male configuration.
• Clinically, patients with Turner syndrome are short, and they have a small chin, prominent folds of skin at the inner corners of the eyes (epicanthal folds), low-set ears, a webbed neck, and a shieldlike chest. Individuals with Turner syndrome also have an increased incidence of anomalies of the heart and large blood vessels.

4. Human Diseases – Various; Genetics: Turner syndrome, TS, Turner-Albright syndrome, gonadal dysgenesis.

• A disorder of gonadal differentiation in patients phenotypically female, marked by short stature, undifferentiated (streak) gonads, and variable abnormalities that may include webbing of the neck, low posterior hair line, cubitus valgus, and cardiac defects.
• Turner’s syndrome is typically associated with absence of the second sex chromosome (XO or 45,X) …
• gonadal dysgenesis: This general term for a defective development of the gonads is sometimes used to refer specifically to Turner syndrome.

S: 1. ASU – https://embryo.asu.edu/pages/henry-hubert-turner-1892-1970 (last access: 19 December 2024); MW – https://www.merriam-webster.com/dictionary/Turner’s%20syndrome#word-history (last access: 15 December 2024); Etymonline – https://www.etymonline.com/search?q=syndrome (last access: 15 December 2024). 2. MW – https://www.merriam-webster.com/dictionary/Turner’s%20syndrome#medicalDictionary (last access: 15 December 2024). 3. EncBrit – https://www.britannica.com/science/Turner-syndrome (last access: 19 December 2024). 4. TERMIUM PLUS (last access: 19 December 2024).

OV: Turner’s syndrome

S: TERMIUM PLUS (last access: 19 December 2024); GDT – https://vitrinelinguistique.oqlf.gouv.qc.ca/fiche-gdt/fiche/8891885/syndrome-de-turner (last access: 19 December 2024); EncBrit – https://www.britannica.com/science/Turner-syndrome (last access: 19 December 2024).

SYN: TS, Turner-Albright syndrome, gonadal dysgenesis. (depending on context)

S: TERMIUM PLUS (last access: 19 December 2024)

CR: dwarfism, growth hormone, syndrome.