Reproductive endocrinology
An 18-year-old boy was referred to the endocrine clinic due to lack of libido and delayed puberty. His two elder brothers had attained puberty at 13 and 14 years, respectively. On examination, he was 170 cm tall, with a lack of pubic, axillary, and body hair. His phallus size was 4 cm with a testis volume of 4.5 mL bilaterally. He had features of anosmia and synkinesis.
Investigations:
FSH Less than 0.5 U/L (1.4–18.1)
LH less than 0.5 U/L (3.0–8.0)
prolactin 158 mU/L (45–375)
testosterone 2.3 nmol/L (8–32)
free T4 17.1 pmol/L (11.5–22.7)
TSH 3.8 mU/L (0.35–5.5)
Which one of the following proteins is defective in this condition?
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