Nanism due to growth hormone combined deficiency

Nanism due to growth hormone combined deficiency is a medical condition characterized by significantly reduced stature in individuals, primarily due to a combined deficiency of growth hormone and other factors necessary for normal growth. This condition falls under the broader category of dwarfism, which encompasses various disorders leading to short stature.

Causes

Nanism due to growth hormone combined deficiency is caused by inadequate production or response to growth hormone (GH), often in combination with deficiencies in other hormones such as thyroid-stimulating hormone (TSH) or gonadotropins. The deficiency can be congenital, resulting from genetic mutations or developmental issues affecting the pituitary gland, or acquired later in life due to injury, tumors, or other medical conditions affecting the pituitary or hypothalamus.

Symptoms

The primary symptom of this condition is shorter than average height with normal body proportions. Other symptoms may include delayed puberty, increased fat distribution around the waist, and, in some cases, a younger-looking appearance than one's chronological age. Children with this condition may also experience slow or delayed tooth development and an increased risk of developing cardiovascular diseases due to altered lipid metabolism.

Diagnosis

Diagnosis of nanism due to growth hormone combined deficiency involves a combination of physical examinations, medical history, and laboratory tests. Key diagnostic tests include measuring levels of GH in the blood, especially following stimulation tests, and assessing levels of other pituitary hormones. Imaging studies, such as MRI, may be used to examine the structure of the pituitary gland and surrounding brain areas.

Treatment

Treatment typically involves hormone replacement therapy, most notably with recombinant human growth hormone (rhGH). This therapy aims to normalize growth rates and improve final adult height. In cases where other hormone deficiencies are identified, additional hormone supplements, such as thyroid hormone or sex steroids, may be necessary. Early diagnosis and treatment are crucial for achieving the best outcomes.

Prognosis

With early and appropriate treatment, individuals with nanism due to growth hormone combined deficiency can achieve near-normal adult height and lead healthy lives. However, untreated or inadequately treated conditions can lead to various complications, including metabolic disorders and reduced quality of life due to psychosocial impacts.