Individuals of unusually short stature who possess a growth hormone deficiency resulting from impaired pituitary gland function are diagnosed with pituitary dwarfism. Commonly referred to simply as growth hormone deficiency, this condition possesses a good prognosis with early detection and prompt treatment. Those who are diagnosed with this form of dwarfism generally undergo treatment that involves the regular administration of hormone replacement therapy.
The pituitary gland is generally considered a central hub for hormone production, distribution, and regulation. In the presence of this form of dwarfism, the pituitary gland's function is significantly impaired, producing insufficient growth hormone. The disorder most commonly presents as a congenital condition, meaning it is present at birth, and its cause is usually idiopathic, meaning there is no discernible reason for the presentation of the condition. If the pituitary gland is injured, a disruption in hormone production may occur leading to symptom onset. In some cases the presence of disease during one's developmental years, such as certain cancers, may also initiate hormone disruption leading to pituitary dwarfism.
The presence of pituitary dwarfism may first manifest during infancy when the child does not reach key developmental milestones. When the disorder presents later in life, adolescents with the condition may not undergo puberty as their peers do. If the condition presents with other chromosomally mosaic conditions, such as Turner syndrome, the individual may not develop sexually due to the inadequacy or absence of additional key hormones. In some instances, the presence of other chromosomal mosaicisms may induce thyroid and adrenal dysfunction that may also manifest in the presence of pituitary dysfunction. Rarely, pituitary dwarfism may present to a degree during adulthood if the individual has sustained a significant head injury or developed hormonal disruption due to the presence of disease that adversely affects or originates in the pituitary gland.
A diagnosis of pituitary dwarfism is generally confirmed with a physical examination of the individual. His or her physical proportions, including stature and weight are evaluated for appropriateness as determined by his or her age. Those who demonstrate diminished or absent growth will generally register far below the expected average for their age group. Apart from a very young appearance, individuals diagnosed with pituitary dwarfism normally do not demonstrate any pronounced physical characteristics or abnormalities other than being below average in height. In addition to a physical examination, a battery of diagnostic tests may be performed to further support a diagnosis of pituitary dwarfism.
Imaging tests, including X-ray and magnetic resonance imaging (MRI), may be performed to evaluate the age and condition of the individual’s bones and assess whether he or she is demonstrating normal, patterned bone development. Extensive tests may also be performed to evaluate the condition and functionality of his or her hypothalamus and pituitary gland. Additionally, blood tests may be administered to assess hormone levels and check for any deficiencies or markers indicative of disease.
An early diagnosis and the administration of appropriate treatment are key to a successful prognosis in the presence of pituitary dwarfism. Those who respond positively to the administration of growth hormone therapy during the early stages of their development may demonstrate an ability to meet established developmental milestones with regard to height and skeletal maturation before his or her growth plateaus. Complications associated with the regular administration of growth hormone may include widespread joint discomfort and a tendency to retain water and fluids which can lead to weight issues necessitating use of a diuretic to alleviate chronic distention.