Gonadotrophin releasing hormone deficiency

What is Gonadotropin-Releasing Hormone Deficiency?

Gonadotropin-Releasing Hormone (GnRH) deficiency is a condition caused by inadequate release of GnRH, which regulates the release of reproductive hormones from the pituitary gland. It is a rare disorder that prevents the normal development of sexual organs and sexual maturation. In females, it can lead to delayed or absent puberty, absent or irregular menstrual cycles, and infertility. In males, it can cause underdevelopment of the sex organs.

Symptoms of GnRH Deficiency

The symptoms of GnRH deficiency depend on the age of diagnosis and its severity. In young children, signs may include:

  • Delayed puberty
  • Lack of breast development in girls
  • Poor growth of pubic hair, armpit hair, facial hair, and body hair
  • Lack of facial hair in boys
  • Lack of deepening of the voice in boys
  • Softening of the skin
  • Stunted growth

In older children and adults, symptoms of GnRH deficiency may include:

  • Lack of menstruation in women
  • Amenorrhea, irregular menstrual cycles
  • Infertility
  • Lack of sexual desire
  • Lack of sexual development in men

Causes of GnRH Deficiency

GnRH deficiency can be caused by a number of different things, including:

  • A genetic disorder, such as Prader-Willi syndrome
  • Congenital malformation or absence of the hypothalamus
  • Cranial irradiation
  • Stroke
  • Sox2 gene deficiency
  • Infections
  • Tumors
  • Hormone imbalances

Diagnosis and Treatment of GnRH Deficiency

In order to diagnose GnRH deficiency, a doctor will perform a physical examination and order certain hormone tests, including follicle-stimulating hormone (FSH) and luteinizing hormone (LH) levels. If these tests indicate deficiency, the doctor will typically do additional testing to diagnose the underlying cause.

Treatment for GnRH deficiency typically involves hormone therapy, with medication to supplement the missing hormones. In addition, dietary and lifestyle changes may be recommended to help balance hormone levels. Surgery may be needed if there is an underlying tumor or malformation that is causing the deficiency.