Turner Syndrome

Patient Presentation:
H.M., a 16-year-old female presents to the OB/GYN office complaining of primary amenorrhea. H.M. reports that she has never experienced menstruation or vaginal spotting. Additionally, patient reports that her mother and sister experienced menarche at age of 13, resulting in normal reproductive and sexual development thereafter. Past medical history is significant for a heart murmur discovered in early childhood, delayed growth in development beginning at the age of four and chronic middle ear infections. Patient’s medical records also indicate treatment for four UTIs over the course of the past year. Patient denies recent exposure to radiation, viral infection, chemotherapy treatment and/or surgical removal of an ovary. Family history is negative for heredity diseases. Physical exam is significant for delayed development of secondary sexual characteristics with Tanner stage 2 breast development and Tanner stage 1 pubic hair development. Patient’s chest is broad; nipples are widely spaced with minimal breast bud elevation. Patient’s BMI is 21, indicating a healthy weight. Short stature is noted with patient’s height measuring at 4’10”. Patient’s first-degree female relatives have an average height of 5’7”. Patient also displays disproportionately short finger and toenails. Subtle webbing of the neck with low posterior neckline is noted.

Differential List:
Turner Syndrome is highly likely due to combination of physical characteristics and significant past medical history; however, diagnosis cannot be confirmed without karyotype testing.  This case of amenorrhea may also be explained by anatomic abnormalities, such as congenital absence of uterus, ovaries, or vagina, or hormonal abnormalities, such as hypothyroidism, hypothalamic dysfunction, or pituitary dysfunction.

Diagnosis:
Based on the karyotype, the diagnosis was Turner Syndrome.

Treatment:
Patient began growth hormone treatment in the form of injections several times a week with the intention of increasing patient’s height as much as possible. In this case, the growth hormone treatment is intended to mimic the adolescent growth spurt. Growth hormone treatment will be stopped when maximum height is achieved. The patient is also started on estrogen therapy in order to begin puberty with the ultimate goal of achieving adult secondary sexual characteristics. Patient will continue estrogen therapy throughout adulthood, ceasing therapy at average age of menopause. Estrogen therapy will also protect patient from osteoporosis. Patient will also be evaluated by primary care practitioner for learning disabilities; while most patients with Turner Syndrome have normal levels of intelligence; learning disabilities and difficulty in social situations are identified in some cases. Additionally, patient is referred to cardiologist in order to monitor the heart murmur and to routinely evaluate for the disease’s associated cardiac disease processes. Patient is also referred to mental health therapist in order to help patient process this diagnosis and its implications for her fertility.

Outcome:
Women diagnosed with Turner Syndrome are capable of leading fulfilling lives; however, their condition requires consistent and thorough medical attention. Turner Syndrome frequently affects the development of several body systems resulting in complications, such as aortic coarctation, kidney problems and high blood pressure; therefore, patients should have regular medical follow-up to avoid serious complications secondary to this syndrome. Most cases of Turner Syndrome result in serious cardiovascular and kidney disease processes if not managed properly. Most women with Turner Syndrome are infertile; however, in rare cases, women have been able to become pregnant with aggressive fertility treatments and/or embryonic donations.
Case created by Hannah MacIntyre, 2011.