Idiopathic Hypogonadotropic Hypogonadism

Understanding Idiopathic Hypogonadotropic Hypogonadism

Idiopathic hypogonadotropic hypogonadism (IHH) is a rare, genetic, endocrine disorder characterized by delayed or incomplete sexual development in both males and females. IHH is typically caused by a genetic mutation causing a lack of responsiveness to the gonadotropin-releasing hormone (GnRH) that controls the secretion of the two sex hormones, luteinizing hormone (LH) and follicle-stimulating hormone (FSH). An absence of these two hormones results in delayed puberty, inability to produce sperm or ovum, and infertility.

The symptoms of IHH vary depending on the age and gender of the patient. In pre-pubertal children, symptoms may include abnormal external genitalia, lack of normal growth of pubic and axillary hair, feminization or masculinization of the external genitals, and infertility. The most common symptom in males is a lack of testicular development, manifested by a decreased size of the testicles. In females, IHH is characterised by primary amenorrhea, which is the absence of menstruation by age 16. Other symptoms in females include lack of breast development, lack of the usual changes that occur in the pelvic area during puberty, and infertility.

The diagnosis of IHH is made through clinical assessment of physical characteristics and blood tests to measure the levels of LH, FSH, and other sex hormones. Treatment for IHH usually involves hormone therapy including daily injections of gonadotropins to replace the lack of LH and FSH. Although hormone treatment has been shown to be effective in some cases, some cases may require assisted reproductive technologies, such as in-vitro fertilization (IVF).

Living with IHH can be challenging. Patients should be aware of the treatment options available and any side effects that may be associated with therapy. It is also important to seek support from family and friends to help cope with the emotional impact of this condition.

Common Symptoms of IHH:

  • Delayed or incomplete sexual development
  • Abnormal external genitalia
  • Lack of normal growth of pubic and axillary hair
  • Feminization or masculinization of the external genitals
  • Infertility
  • Lack of testicular development
  • Primary amenorrhea or absence of menstruation
  • Lack of breast development
  • Lack of pelvic changes during puberty