Case study 4: 10 points

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A 24-year-old man presented with a history of hay fever, which had been treated with antihistamines. He
relates diminished smell. He continues to grow slowly and pubertal development has been slow. The man
denies erections or nocturnal emissions.

Physical Exam eunuchoidal man, appearing younger than age

Height 72 inches
Arm span 75 inches
Weight 180 lb
Blood pressure 130/82
Hair spare facial, axillary, and pubic
Genitalia penis: 3.1 cm (small)
Testes soft 1cm x 1.5cm x 1.5 cm (normal >4.4cm x 3cm x 3cm)

Laboratory results
Testosterone 157ng/dL (normal adult 300-1000ng/dL)
LH <2 mU/mL (normal adult 3-18 mU/mL)
PRL 6 ng/mL (normal 5-25ng/mL)
TSH 1.2 mU/mL (normal 0.3-5.0 mU/mL)

GnRH stimulation test

Time (min.) LH Reference range
0, GnRH <2 mU/mL 3-18 mU/mL
15 <2 post stimulation: 2.5 times baseline at some point
30 3
45 <2
60 3

After GnRH priming

Time (min.) LH Reference range
0 <2 mU/mL 3-18 mU/mL
15 10 LH rise greater than 2.5 times baseline at some point
30 12
45 16
60 12

Questions:
1. Where is the level of the patient’s defect in terms of the normal regulatory feedback system?
2. What is the significance of the body measurements?
3. What is the most likely diagnosis?
4. Is it possible to restore fertility for this patient? What treatment(s) would be required?