Endocrine Abstracts

Turner syndrome (TS) is the most common chromosomal anomaly in females and its occurrence is about 1:4000 live births. This is the only monomer disease that humans can survive (1). It is characterized by the presence of one X chromosome and a partial or complete loss of the second X chromosome. Clinical features of TS can vary, mainly classified into Growth failure, gonadal insufficiency, cardiovascular diseases, or learning disabilities. Short stature is the only phenotypic abnormality that presents in virtually all patients with turner syndrome (2). Patients with incidental findings of turner syndrome have had significantly fewer phenotypic features and cardiac defects (3). Here we present Ms. C, a 16-year-old girl, who presented with menorrhagia, diagnosed with Turner syndrome during a routine evaluation for an incidental finding of short stature. She was noted to be shorter than her peers since childhood and did not seek medical advice. She attained normal menarche at the age of 13 and has been having frequent heavy cycles since then which required repeated blood transfusions. Her height was 119 cm (Mid parental height was 143 cm). She had a webbed neck and a wide carrying angle, otherwise, the examination was nil significant. Karyotyping examination resulted in a 45X chromosomal pattern with a negative SRY gene. About 15-20% of patients with TS go through spontaneous puberty and only half of them complete it with menarche which usually ends up in secondary amenorrhea (4). A small number of patients have regular menstrual cycles and ovarian function (5) and interestingly there are very few reported cases of menorrhagia, thus implying it is exceedingly rare (5). This is a good learning point, that any female with short stature, irrespective of other features, should be evaluated for TS.