XVIII Международная студенческая научная конференция Студенческий научный форум - 2026

Introduction. Turner’s Syndrome is a chromosomal disorder in which female have only one “Х”chromosome instead of two “Х” chromosome it can also be represented as “45, X0”. Itoccurs only 1 in 2000 live female birth [1].

Causes. Human typically have 23 pairs of chromosomes, for a total of 46. These include 22pairs ofnumbered chromosomes (called autosomes) and one pair of sex chromosomes. Youinherited one chromosome of each pair from each biological parent. The 23rd pair determines sex at birth. Typically, females have two X chromosome (XX) while males have only one X and one Y Chromosome (XY).

• Monosomy – is aneuploidy characterised by missing one X chromosome in the human body. About 50% of cases occur when an egg or sperm lack chromosome, resulting in every cell having only one X chromosome [1].

• Mosaicism – is genetic condition in which two or more populations of the cell with different genotypes instead of coming from one fertilised egg. Some cells have two normal X-chromosome while others have only one or a missing / altered X-chromosome, caused by error in early cell division.

• X chromosome structural abnormalities: some individuals may have one complete X chromosome and one altered or partial X chromosome [2].

• SHOX Gene Deletion: The loss of the SHOX gene on the x- chromosome cause short stature and skeletal skeletal dysplasia, and characteristic bone anomalies.

Symptoms. Some girls have noticeable Turner syndrome symptoms early in life while other might not show signs until later. Symptoms can be mild and develop gradually during childhood. They can be significant and noticeable shortly after birth. Still others don’t receive a diagnosis until adulthood.

Your healthcare provider may suspect Turner syndrome before birth based on “parental genetic testing or pregnancy ultrasound” Signs include the foetus having: 1) heart problems; 2) urinary problem /kidney problems; 3) fluid collecting around the back of the neck.

Symptoms of Turner Syndrome that appear at birth or shortly after are:

• Ear differences, like low -set ears, elongated ears, cup shaped ears and thick ear lobes,

• Low hairline at the back of the neck,

• A short, wide neck or webbed neck,

• Small and receding lower jaw,

• Broad chest and nipples that are spaced apart,

• Arms that point slightly toward at the elbows,

• A missing knuckle that makes a finger or toe shorter than the rest,

• Narrow fingernails and toenails [2].

Some of the sign and symptoms of Turner’s syndrome in children, teens and adults:

• Growing more slowly than peers (usually noticeable by age 5),

• Lacking growth spurts as child or teen,

• Having delayed or absent puberty (not developing breast or getting a period),

• Having low levels of sex hormones like estrogen,

• Not being able to get pregnant.

Complication:

• Cardiovascular disease: up to 50% of people with Turner syndrome are born with a congenital heart condition that affects the structure of their heart. The condition usually involves the aorta which is the large blood vessel that delivers oxygen rich blood to your body.

• Skeletal issue: bone conditions are common with Turner syndrome and may include increased risk for osteoporosis, bone fractures and scoliosis.

• Autoimmune condition: Turner syndrome increases risk of celiac disease, Hashimoto disease and inflammatory bowel disease.

• Hearing issue: hearing loss can develop in people with Turner syndrome. This can be due to the frequent middle ear infection or loss of nerve function.

• Vision and eye problems:the most common vision issue include refractive error [3].

Diagnosis and Test. Healthcare can diagnose Turner Syndrome before or after birth.

Diagnosis before birth:

• Non-invasive prenatal testing (NIPT): These are blood tests during pregnancy that detect congenital disorder in the foetus.

• Radiography during pregnancy: This may show that the foetus has some features of Turner syndrome like heat problems and fluid around neck.

• Amniocentesis and chorionic villus sampling: providers perform a genetic test with karyotype analysis or placental tissue. It confirms if foetus has Turner syndrome [1].

Diagnosis after birth:

Neonatal management is very important. Neonatal management can be organized by the maternity unit pediatrician in partnership with a clinical geneticist and/or a pediatric endocrinologist. It includes:

• Detailed clinical examination, with screening for characteristic morphological features.

• Screening for aortic coarctation (peripheral pulses, BP), examination of the hips.

• FISH analysis on sex chromosomes or karyotyping. Screening for Y chromosome material (FISH or PCR): molecular analysis is indicated to detect Y-chromosome sequences in TS patients.

• Consultation with a cardiologist, in a pediatric setting, with cardiac ultrasound (screening for malformations) and, possibly, electrocardiogram (EKG) (QT measurement) examinations.

• Renal ultrasound examination to screen for malformations.

• Consultation with a pediatric endocrinologist at about the age of 6 to 12 months, or earlier if requested by the parents.

• Gonadotrophin determination.

• Plasma creatinine determination, if renal abnormalities are detected [4].

References:

1. Turner Syndrome: Monosomy X. – Text : electronic // ABCD Medical : [website]. ­– 2023. – January 23. – URL: https://www.abcdmedical.org/2023/01/turner-syndrome.html(data accessed: 05.02.2026).

2. Turner Syndrome- Symptoms, Causes, Treatments, & More. – Text : electronic //ImpactGuru : [website]. – 2026. – URL:

https://www.impactguru.com/info/turner-syndrome/ (data accessed: 05.02.2026).

3. Turner Syndrome. Overview. – Text : electronic // Mayo Foundation for Medical Education and Research (MFMER) : [website]. – 2018. – URL:

https://web.archive.org/web/20181219134146/https://www.mayoclinic.org/diseases-conditions/turner-syndrome/symptoms-causes/syc-20360782 (data accessed: 06.02.2026).

4. Elodie Fiot et al. Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol) / Elodie Fiot et al. – DOI:10.1186/s13023-022-02423-5. – Text : electronic // Orphanet Journal of Rare Diseases. – 2022. – V.17. – P.1-38. – URL:

https://www.researchgate.net/publication/361952551_Turner_syndrome_French_National_Diagnosis_and_Care_Protocol_NDCP_National_Diagnosis_and_Care_Protocol (data accessed: 10.02.2026).

*The review article has been written under the guidance of Associate Professor of biology department of Orenburg State Medical University, Cand. Sc. (Biology), G.F. Kolchugina

*Данная обзорная статья написана под руководством доцента кафедры биологии Оренбургского государственного медицинского университета, кандидата биологических наук Г.Ф. Кольчугиной.