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.

1. What is the endocrine disorder in this individual?

The endocrine disorder in this individual is called Isolated hypogonadotropic hypogonadism (iHH), or isolated gonadotropin deficiency (IGD)

2. Is the patient's delayed onset of puberty a primary or secondary disorder? Why?

It is a secondary disorder. This is because the individual had both low serum testosterone levels and sperm count which responded with an administration of gonadotropin releasing hormone and human chorionic gonadotropin. This means the patient's pituitary gland was not producing enough GnRH to stimulate spermatogenesis and testosterone production. Since it is a disorder of the pituitary, this is a secondary disorder.

Why is HCG used in the treatment?

HCG is used for normalization of testosterone levels so as, the individual can start having the desired secondary characteristics and stimulation of testicular growth and penis size which also stimulates, production of sperms.

4. Both FSH and HCG are needed in the treatment. Explain Why

They are both needed in the treatment because they both work concurrently and synergistically to restore normal spermatogenesis. Spermatogenesis can be restored with a combination of hCG and human menopausal gonadotropin (hMG, follicle-stimulating hormone [FSH], and luteinizing hormone [LH]), hCG and FSH alone, or gonadotropin-releasing hormone (GnRH) injections. Most patients with IHH require a combination of hCG and FSH to stimulate sperm production. The starting dose for hCG is 1000 IU, and FSH is 75-150 IU on alternate days with dosage adjusted based on trough testosterone level, testicular growth, sperm production, and avoidance of adverse effects.