Case report II

Patient with an unusual adolescence


Christine (15 years) was brought by her parents to the doctor’s for unusual course of adolescence. Over the last few months her voice broke, she grew quite a bit of muscle and still haven’t had her first menstruation. During physical examination the doctor found female external genitalia with an enlarged clitoris but abdominal ultrasound failed to find the uterus or ovaries.

Question 1:

In which signalling system or systems could there be a problem?

At what level/s?

Routine laboratory tests produced the following results:

S-Na+ 141 mmol/l

S-K+ 4 mmol/l

S-Cl- 104 mmol/l

S-Glucose 5.0 mmol/l

ACTH 40 pg/ml

LH 4.5 mU/ml

FSH 8.12 mU/ml

testosterone 21.8 nmol/l

estradiol 230 pmol/l

Question 2:

Which values are abnormal?

What other tests/examinations would you perform?

What do the values of LH, FSH and ACTH tell us?

What is the source and effect of these signalling molecules?

What are the stimuli for their release?

During laparoscopy the surgeon found one gonad in the small pelvis.

Question 3:

Where could be the defect: in the synthesis of signalling molecules or in their effect?

How would you distinguish between these possibilities?

What exactly causes Christine’s condition?