Question

1. What is the endocrine disorder in this individual?
2. Is the patient's delayed onset of puberty a primary or secondary disorder? Why?
3. Why is HCG used in the treatment?
4. Both FSH and HCG are needed in the treatment. Explain Why

Case Study

Parents were concerned about their 16-year-old son for the following reasons: he had no deepening of his voice, scanty pubic and axillary hair growth, absence of beard and mustache growth, small penis, poor muscular development, and psychosocial immaturity.

Laboratory evaluation indicated the following:

Serum testosterone: 100ng/dL

Sperm count: 10 million/mL semen

The following tests were performed:

Clomiphene (a nonsteroidal, weak estrogen agonist that stimulates the release of gonadotropins) 100 mg/day for seven days: 0% increase in LH (50% is normal)

Gn-RH (100 µg I.V.): 0% increase in LH in twenty minutes (300% is normal)

HCG (5000 I.U., I.V.): 50% increase in plasma testosterone one to three days after injection

This person was subsequently treated with FSH at 25-75 U three times/week and HCG as described above. Sperm count and testosterone levels were both near normal after two months of treatment, and primary and secondary sex characteristics appeared.

Answer 1

1. The son is suffering from Hypogonadism, which is linked to low testosterone production by Leydig cells. His sperm count is 10 million/mL which is low. Sperm counts should be more than 20 million per mL to be normal. Testosterone is directly linked to low sperm count as sperm cells are formed in response to testosterone. There is absence of secondary sexual characteristics in males, due to reduced testosterone. These include deepening of voice, lack of muscle growth, no beard formation and less pubic and auxiliary growth, development of auxiliary male reproductive tissues which normally occur in males during puberty. There is deficiency in the gonads-testis.

2. The secondary characteristics are majorly affected. There have been no studies on fertility. The son is only 16 year old, which is the time when puberty is over in males. In primary disorders, sexual organs are not affected directly. Hence, this is a secondary disorder.

3. Human chorionic gonadotropin or hCG is mostly a pregnancy hormone released in females. However, hCG can affect males as well. It can cause increased production of testosterone. This effect of hCG is because it can mimic luteinizing hormone. LH is secreted by Leydig cells in testis and is known to increase production of testosterone.

4. FSH is released by the anterior pituitary in response to GnRH hormone. FSH acts on Sertoli cells and increase production of androgen binding protein (ABP). ABP is secreted in lumen of seminiferous tubules and binds to testosterone and will increase availability to developing spermatogonium. Thus, FSH increases sperm production in testis. The hCG will act like LH and increase testosterone production. Increase ABP secretion and testosterone secretion will overcome the defect of hypogonadism/