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14 Cards in this Set

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A 15-year-old female comes to the clinic with a chief complaint of feeling tired for one month. She has also been complaining of frequent nosebleeds while at school and bruising easily. When further history is elicited, you find out that menarche was at the age of 9 and her periods have always been heavy and irregular. Her mother and grandmother also have histories of heavy periods and easy bruising. You suspect a bleeding disorder and send off some labs including a CBC, INR, PT, PTT, and a von Willebrand panel to confirm your diagnosis. Your suspicion was correct for the most common type of bleeding disorder. How is this bleeding disorder most commonly inherited?

Autosomal dominant inheritance

AD inheritence disorders (common)


  • von Willebrand's disease
  • Marfan syndrome
  • neurofibromatosis
  • Huntington's disease

AR inheritence disorders (common)

  • Tay-Sach's disease
  • Cystic fibrosis

XLR inheritance (common disorders)

  • Duchenne's muscular dystrophy
  • hemophilia
  • Fragile X syndrome

Mitochondrial inheritance disorders (common)

  • Leber's hereditary optic neuropathy
  • mitochondrial encephalopathy

A 14-year-old girl presents to your office wondering why she has not had her period yet. Her mother states that she and the patient’s grandmother reached menarche at 13 years of age. The patient is concerned she is behind her friends in terms of development. She is doing well in school and has not had developmental problems in the past. On physical examination, her breasts are elevated without a secondary mound, and curly, coarse pubic hair is present on the labia majora in a triangular shape but does not reach the mons pubis. What Tanner stage would you assign this patient?

Tanner Stage III

Tanner stage I

  • no glandular tissue (breast)
  • prepubertal
  • usually age 10 or younger

Tanner Stage II breast development

  • breast buds form
  • areola begins to widen
  • small amount of long downy hair with slight pigmentation on the labia majora

Tanner Stage IV

  • breasts increased in size and elevation
  • areola and papilla form secondary mound the projects from contour of rest of breast
  • pubic hair extends across mons pubis and spares medial thighs

Tanner stage V


  • breasts reach adult size
  • areola returns to contour of surrounding breast
  • central papilla projects
  • pubic hair extends to medial surface of thighs
A 16-year-old female presents to clinic complaining of worsening fatigue. Family history is significant for hypothyroidism and heavy periods in the grandmother. Her exam reveals mild tachycardia and oozing around a recent piercing, but is otherwise normal. Labs reveal Hgb 8.5 g/dL, MCV 58, PT 12.5, PTT 44, and low von Willebrand factor activity. Which of the following is the most appropriate treatment for her underlying disorder?

Desmopressin

Treating von willebrand's disease?

Desmopressin: works by causing release of von Willebrand's factor from vessel endothelial cells

A 10-year-old female comes to the clinic for a well child exam. Her mom asks about puberty and wants to know in what order she should expect to see normal developmental changes in her daughter. Which of the following sequences is correct?

breast bud -> pubic hair -> growth spurt -> menarche

Frank is 16-year-old male brought in by his mother who complains that her son “looks much younger than his age.” She states that until about four years ago, she did not notice much difference between Frank and his friends. However, in the past two years, Frank has become the shortest person in his class. Frank's mother is concerned that he has a “hormone problem” and wants to know how she can tell if he has begun puberty. What is usually the first sign of puberty in a male?

Testicular enlargement