#mod e

I imagine that this is a baby Grumbot

also what if it’s house wife Grian x mayor Mumbo? Lowkey wanna write that now…

Urban, V., & Bangalore-Krishna, K. (2025). Turner Syndrome and Gender Incongruence: Considerations for Gender Affirming Hormonal Therapy. Case reports in endocrinology, 2025, 6687002. https://doi.org/10.1155/crie/6687002

Thyroid disorders: People with Turner’s syndrome are at higher risk of developing thyroid disease, especially autoimmune thyroid disorders. In particular, 8 studies showed that TSH and TT3 levels (two different thyroid hormones) were significantly elevated in people with Turner’s. Study authors recommended annual TSH and TT3 thyroid screening for all patients with Turner’s. 

Lacka K, Pempera N, Główka A, Mariowska A, Miedziaszczyk M. Turner Syndrome and the Thyroid Function-A Systematic and Critical Review. Int J Mol Sci. 2024 Dec 2;25(23):12937. doi: 10.3390/ijms252312937. PMID: 39684648; PMCID: PMC11641386.

Growth: A systematic review evaluated the role of growth hormones in treatment of Turner’s and found that growth hormones have a great deal of individual variability in height gain, with an average of only 1 cm per year of height due to growth hormones. Study authors pointed out that it is worth challenging the assumption that taller height is associated with greater quality of life, and that doctors should inform patients that growth hormones are going to be slow, with modest results. (mod e's opinion: I also think this study showcases the ways in which height is another trait that doctors have strangely gendered and ableist assumptions that they frame in the language of medical necessity, and that people should be informed and should feel empowered to make their own decisions about whether or not growth hormone therapy feels beneficial to their life.) 

Kanakatti Shankar, R., Quigley, C. A., Isojima, T., Mauras, N., Chernausek, S. D., Wasniewska, M., & Sas, T. C. J. (2025). Growth and Growth-Promoting Treatments in Turner Syndrome. American journal of medical genetics. Part C, Seminars in medical genetics, 199(1), e32133. https://doi.org/10.1002/ajmg.c.32133

Vison: There are several genes on the X chromosome that code for eye development, and alterations and deletion of those genes can cause several different kinds of visual alterations and visual impairment. There is a significant lack of research into visual conditions and Turner’s, but the existing literature suggests that diagnoses of strabismus, amblyopia, nystagmus, and ptosis occur at higher rates in Turner’s when compared to diagnoses in the general population. There have also been multiple cases of cataracts, hypertelorism, blue sclerae and glaucoma reported in people with Turner’s, but those are rarer.  Study authors indicate that more research should be done into ophthalmologic conditions in Turner’s, and that people with Turner’s should be referred to ophthalmologic specialists for screenings. 

Soszka-Przepiera, E., Krzyścin, M., & Modrzejewska, M. (2024). Visual Impairment in Women with Turner Syndrome-A 49-Year Literature Review. Journal of clinical medicine, 13(18), 5451. https://doi.org/10.3390/jcm13185451

Hearing: A systematic review of 17 articles and 2129 people with Turner’s shows that there are multiple different kinds of diagnoses impacting hearing that are commonly diagnosed in people with Turners, with prevalence ranging from 21-84% of people with Turner’s being HoH/deaf. In studies focusing on children, the most common diagnoses were conductive hearing loss & mixed hearing loss. Overall, the most common diagnosis was sensorineural hearing loss, which was more prevalent among young adults and throughout the lifespan. 

Migliorelli, A., Ciorba, A., Manuelli, M., Corazzi, V., Stomeo, F., Bianchini, C., Pelucchi, S., Monzani, D., Genovese, E., & Palma, S. (2025). Hearing Loss and Turner Syndrome: A Scoping Review. The journal of international advanced otology, 21(1), 1–6. https://doi.org/10.5152/iao.2025.24172

Mosaic Turner’s: 

One possible chromosome arrangement for mosaic Turner’s is 45,X/47,XXX, which occurs in about 3% of people with Turner’s. One study compared the various diagnostic and medical comorbidities of 45,X/ 47,XXX with 45,X (Turner’s) , as well as comparing it with 45,X/46,XX (which is the most common type of mosaic Turner’s.) The study found that in general, people with 45,X/ 47,XXX had less comorbidities then people with 45,X, but more comorbidities than people with 45,X/46,XX. In particular, people with 45,X/47,XXX were more likely to have structural renal anomalies and were twice as likely to have congenital heart disease when compared to people with 45,X/46,XX. 

Klamut, N., Bothwell, S., Carl, A. E., Bamba, V., Law, J. R., Brickman, W. J., Klein, K. O., Kanakatti Shankar, R., Pinnaro, C. T., Fechner, P. Y., Prakash, S. K., Gutmark-Little, I., Howell, S., Tartaglia, N., Good, M., Ranallo, K. C., & Davis, S. M. (2024). Prevalence, diagnostic features, and medical outcomes of females with Turner syndrome with a trisomy X cell line (45,X/47,XXX): Results from the InsighTS Registry. American journal of medical genetics. Part A, 194(12), e63819. https://doi.org/10.1002/ajmg.a.63819

There was a case study about a rare form of mosaic Turner’s called Isochromosome mosaic Turner syndrome (IMTS) that followed someone with mosaic Turner’s who was not diagnosed until she was 47. Her main symptoms were no menstruation, short stature, visual impairment, and being hard of hearing. After hormonal testing, they found she had low FSH, LH, cortisol, and GH. She also had hypopituitarism, which is not typically comorbid with Turner’s. 

Saideekshit, T., S N, M. S., Govindan, S., Prakash, S., & Radhika, M. (2024). Isochromosome Mosaic Turner Syndrome With Concomitant Hypopituitarism and Multiple Meningiomas. Cureus, 16(8), e66548. https://doi.org/10.7759/cureus.66548

Delaying gonadectomy in TS +Y: 

One chromosomal arrangement in mosaic Turner’s is TS+Y (45X/46XY). It is well established in medical literature that people with TS+Y have a higher prevalence of gonadoblastoma, which is a kind of gonad tumor that can eventually become cancerous in some people, but is benign in many people. However, there is a lot of debate about exactly how high that risk is, and many studies overestimate the risk in order to justify  IGM. 

This year, there were two studies published attempting to analyze the actual risk of gonad tumors becoming cancerous, as well as trying to find out data about what age tumors become cancerous. These articles critiqued past studies for making generalizations on their data without accounting for selection bias and a variety of other confounding factors that impact accurate data. 

The data from the new studies suggests that the estimated prevalence is 24.6% for gonadal tumors in individuals with TS+Y, with a relatively low risk (3.5%) of malignant transformation. The authors discussed difficulties in accurately assessing malignancy through available imaging (ultrasounds and MRI), and stated that more research needed to be done to improve non-surgical avenues for assessing malignancy. Overall, these articles supported delaying gonadectomy and cited multiple cases where delaying gonadectomy had been safe for the patient, as well as the important ethical reasons for waiting until people are old enough to participate in making decisions about surgery.