WBR0114
| Author | [[PageAuthor::William J Gibson (reviewed by Rim Halaby, M.D. [1])]] |
|---|---|
| Exam Type | ExamType::USMLE Step 1 |
| Main Category | MainCategory::Genetics |
| Sub Category | SubCategory::Endocrine, SubCategory::Reproductive |
| Prompt | Prompt::A 15-year-old girl is evaluated for failure to experience menarche. The patient is 1.45 m (4’ 9”) tall, has a broad chest, low hairline and a webbed neck. Which of the following is most likely associated with this patient's condition? |
| Answer A | AnswerA::Increased LH, FSH, absence of functional SRY gene |
| Answer A Explanation | [[AnswerAExp::The SRY gene (also known as testis determining factor) is the gene on the Y chromosome that is responsible for the initiation of male sex in humans. Absence of functional SRY gene in an otherwise genetic male would cause Swyer syndrome. Swyer syndrome leads to phenotypic females with gonadal dysgenesis.]] |
| Answer B | AnswerB::Decreased LH, FSH, lack of Barr body |
| Answer B Explanation | [[AnswerBExp::While Turner syndrome is caused by the lack of a barr body, these patients typically have increased FSH and LH.]] |
| Answer C | AnswerC::Increased estrogen, preductal coarctation of the aorta |
| Answer C Explanation | AnswerCExp::While preductal coarction of the aorta is associated with Turner syndrome, the patients typically have decreased estrogen. |
| Answer D | AnswerD::Decreased estrogen, horsehoe kidney |
| Answer D Explanation | [[AnswerDExp::Turner syndrome is associated with horshoe kidney and decreased estrogen due to gonadal dysgenesis.]] |
| Answer E | AnswerE::Decreased LH, FSH, infertile if untreated |
| Answer E Explanation | AnswerEExp::Turner syndrome patients have increased FSH and LH due to low levels of estrogen. |
| Right Answer | RightAnswer::D |
| Explanation | [[Explanation::The patient in this vignette is affected by Turner syndrome. Turner syndrome is caused by the lack of one copy of the X chromosome in females. Patients therefore have the genotype 45,XO. There are characteristic physical abnormalities, such as short stature, swelling, broad chest, low hairline, low-set ears, and webbed necks. Females with Turner syndrome typically experience gonadal dysfunction (non-working ovaries), which results in amenorrhea (absence of menstrual cycle) and sterility. Turner syndrome is also associated with cardiac abnormalities such as preductal coarction of the aorta, and bicuspid aortic valve. Turner syndrome is associated with lymphatic dysfunction causing lymphedema of the hands and feet as well as cystic hygromas which result in the webbed neck phenotype. Patients can have renal abnormalities too, such as horseshoe kidney.
A patient with Turner syndrome and webbed neck is pictured below.
For a detailed discussion of Turner syndrome, see: Turner syndrome history and symptoms]] |
| Approved | Approved::Yes |
| Keyword | WBRKeyword::Reproductive, WBRKeyword::Chromosome, WBRKeyword::Karyotype, WBRKeyword::Turner syndrome, WBRKeyword::Ovulation, WBRKeyword::Genetics |
| Linked Question | Linked:: |
| Order in Linked Questions | LinkedOrder:: |
