Review Question - QID 106945

This patient's clinical presentation is consistent with Turner's Syndrome (TS), which can be diagnosed by karyotyping.

TS is the most common cause of primary amenorrhea with an elevated follicle stimulating hormone (FSH). TS is characterized by lack of a second sex X-chromosome, such that patients have the karyotype 45, X. Patients with TS typically undergo ovarian failure early in childhood and can have a normal or underdeveloped uterus. Other abnormal features include minimal breast development and wide-set nipples. Estrogen replacement therapy can be used to increase development of secondary sex characteristics.

Morgan discusses the diagnosis and management of TS. He notes that estrogen supplementation should be prescribed during puberty in order to promote pubertal development and prevent osteoporosis. In addition, he notes that trials are underway to determine whether egg retrieval during childhood (before ovarian regression), may allow for successful in vitro fertilization procedures in adults with TS.

Torres-Santiago et al. performed a randomized, controlled trial to determine the effects of oral versus transdermal estrogen replacement therapy for patients with TS. Previous studies had suggested that oral estrogen caused increased lipids, in comparison to transdermal estrogen. However, the authors find no difference in lipid oxidation or total lipid levels between the two treatments, and they further note that the transdermal estrogen was associated with more physiologic total estrogen levels in circulating blood.

Illustration A lists the major features of TS. Illustration B is a photo showing the classic appearance of children with TS.

Incorrect Answers:
Answer 1: Hypothyroidism is a known cause of primary amenorrhea, however it presents with normal breast development.
Answer 2: Although anorexia nervosa can present as primary amenorrhea in younger patients, it is more likely to present as secondary amenorrhea in a 17-year-old patient. In addition, anorexia nervosa is associated with a decreased FSH.
Answer 3: Measurement of serum cortisol levels may be appropriate in patients with suspected Cushing Syndrome, however this is usually associated with normal breast development.
Answer 4: Prescribing an oral contraceptive may be effective in patients with polycystic ovarian syndrome, which can cause primary amenorrhea. However these patients usually have normal breast development as well as other associated symptoms/signs of Cushing Syndrome.