Some women and girls often miss one or more of their menstrual periods, a condition known as amenorrhea, others don’t experience breast development, don’t make enough sex hormones, and don’t go through puberty. These and more could be a sign of Turner Syndrome, also known as Congenital Ovarian Hypoplasia Syndrome, and can be different from one person to another, according to medical experts.

Dr Shakhnoza Abdukhalilova, a gynaecologist at Deva Medical Centre in Nyarutarama, notes that turner syndrome is a rare chromosomal disorder that affects females. The ailment is characterised by partial or complete loss (monosomy) of one of the second sex chromosomes.

Turner Syndrome is named after Henry Turner, a physician who, in 1938, was one of the first doctors to report the disorder in the medical literature. Turner Syndrome is one of the most common chromosomal disorders and likely the most common genetic disorder in females.

Dr Abdukhalilova highlights that many features of the disorder are nonspecific and others may develop slowly over time or can be subtle, and every person can be affected uniquely with one or some of the symptoms, such as infertility, ovarian failure, heart abnormalities, hearing loss, and infections.

Among other indications are kidney issues and infections, type 2 diabetes, lymphedema, hypertension, thyroid, hypothyroidism, wide short neck, low set ears, hairline, broad shield chest, weight issues, bone health, osteoporosis, scoliosis, deformity, upturned fingernails, educational difficulties, social anxiety, among others.

Dr Abdukhalilova explains that females with Turner Syndrome and one of the two sex chromosomes in humans known as Y chromosome material, (Y chromosome mosaicism) are at an increased risk of developing a tumour of the gonads. In such cases, it is recommended that the non-functioning gonadal tissue be removed.

Dr Abdukhalilova says that Turner Syndrome is triggered by partial or complete loss (monosomy) of the second sex chromosome. Chromosomes are found in the nucleus of all body cells. They carry the genetic characteristics of each individual and they come in pairs.

"We receive one copy from each parent. Chromosomes are numbered from one through 22; the 23rd pair normally consists of one X and one Y chromosome for males and two X chromosomes for females. Thus, females with a normal chromosome make-up (karyotype) have 46 chromosomes, including two X chromosomes (46, XX karyotype),” she explains.

Each chromosome has a short arm labelled ‘p’ and a long arm ‘q’. Chromosomes are further subdivided into many bands that are numbered. In females with Turner Syndrome, all or a portion of one of the second sex chromosomes is missing. The reason that this occurs is unknown and is believed to result from a random event, Dr Abdukhalilova adds.

According to Dr Abdukhalilova, the treatment of Turner Syndrome is directed towards the specific symptoms that are present in each individual.

"Treatment may require the coordinated efforts of a team of specialists. Paediatricians, paediatric specialists, surgeons, cardiologists, endocrinologists, speech pathologists, otolaryngologists, ophthalmologists, psychologists, and other healthcare professionals may need to systematically and comprehensively plan an effective treatment. Genetic counselling is recommended for affected individuals and their families,” she says.

The gynaecologist carries on that there is no cure for this illness, but therapies have been developed that can improve physical development. With proper medical care, females with Turner Syndrome should be able to live full, productive lives. Although some cases of Turner Syndrome are inherited, most of them aren’t.

She further says that most affected girls and women have normal intelligence, but some have developmental delays, learning disabilities, and, or behaviour problems.

Dr Abdukhalilova highlights that a diagnosis of this condition is often confirmed by chromosomal analysis, which is usually achieved by determining the karyotype. Karyotyping is a laboratory test that evaluates the number and structure of chromosomes. Karyotyping can be done on almost any type of tissue. In most cases, a blood sample is used to determine a person’s karyotype.

She adds that turner syndrome is being increasingly diagnosed before birth (prenatally). Screening for illness and other chromosome abnormalities can be performed by non-invasive testing on a maternal blood sample. Definitive testing can be done by Chorionic villus sampling-CVS or amniocentesis.

"CVS is performed at 10 to 12 weeks of pregnancy and involves the removal of tissue samples from a portion of the placenta, while amniocentesis is performed at 16 to 18 weeks gestation and consists of taking a small sample of the fluid around the foetus.

"While looking after a patient with Turner Syndrome, it’s advisable to compliment them about their strengths and coping skills. Be patient, positive, and open to discussions about their limitations and fears. It is also necessary to encourage girls to participate in activities that don’t require height or those that boost their self-esteem.”

Dr Abdukhalilova also notes that girls who are depressed or have self-esteem problems, ought to be assisted to seek counselling with a mental health professional, and also need to be assisted when they are sad.