Pituitary dwarfism is a condition where individuals have growth hormone deficiency due to impaired pituitary gland function. It can occur congenitally or due to head trauma or disease affecting the pituitary gland. Diagnosis involves physical exams, imaging tests, and blood tests. Early diagnosis and treatment with hormone replacement therapy can lead to successful outcomes.
Individuals of unusually short stature who possess growth hormone deficiency resulting from impaired pituitary gland function are diagnosed with pituitary dwarfism. Commonly referred to simply as growth hormone deficiency, this condition has a good prognosis with early diagnosis and prompt treatment. Those diagnosed with this form of dwarfism usually undergo treatment that includes regular administration of hormone replacement therapy.
The pituitary gland is generally considered to be a central hub for the production, distribution and regulation of hormones. In the presence of this form of dwarfism, the function of the pituitary gland is significantly impaired, producing insufficient growth hormone. The disorder most commonly occurs as a congenital condition, meaning it is present at birth and its cause is usually idiopathic, meaning there is no discernible reason for the condition to present. If the pituitary gland is damaged, there can be a disruption in hormone production leading to the onset of symptoms. In some cases, the presence of diseases during the developmental years, such as some types of cancer, can also initiate a hormonal disruption that leads to pituitary dwarfism.
The presence of pituitary dwarfism may first appear in infancy when the child does not reach milestones in development. When the disorder presents itself later in life, teens with the condition may not go through puberty like their peers do. If the condition presents with other mosaic chromosomal conditions, such as Turner syndrome, the individual may not develop sexually due to the inadequacy or absence of additional key hormones. In some cases, the presence of other chromosomal mosaicisms can lead to thyroid and adrenal dysfunction which can also occur in the presence of pituitary dysfunction. Rarely, pituitary dwarfism can present to some extent during adulthood if the individual has suffered significant head trauma or developed a hormonal disruption due to the presence of a disease affecting or originating in the pituitary gland.
A diagnosis of pituitary dwarfism is usually confirmed with a physical exam of the individual. His physical proportions, including height and weight, are evaluated for appropriateness based on his age. Those who exhibit little or no growth will generally register far below the expected average for their age group. Other than a very youthful appearance, individuals diagnosed with pituitary dwarfism typically exhibit no pronounced physical characteristics or abnormalities other than being below average height. In addition to a physical exam, a variety of diagnostic tests may be performed to further support a diagnosis of pituitary dwarfism.
Imaging tests, including X-rays and magnetic resonance imaging (MRI), may be performed to assess the age and condition of the individual’s bones and assess whether they are demonstrating normal, patterned bone development. Extensive tests may also be performed to assess the condition and function of your hypothalamus and pituitary gland. In addition, blood tests may be administered to evaluate hormone levels and check for any deficiencies or markers indicative of disease.
Early diagnosis and the administration of appropriate treatment are essential for a successful prognosis in the presence of pituitary dwarfism. Those who respond well to growth hormone therapy administration early in their development may demonstrate the ability to achieve established developmental milestones in height and skeletal maturation prior to their growth plateaus. Complications associated with regular growth hormone administration can include widespread joint discomfort and a tendency to retain water and fluids which can lead to weight problems requiring the use of a diuretic to relieve chronic distension.
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