SNP Shot: Genomic Insights

Combined pituitary hormone deficiency (CPHD) occurs when the pituitary gland, found at the base of the brain, doesn't produce enough of several key hormones. This hormone shortage can impact the proper development of various bodily systems. Often, the first noticeable sign is a child not growing as expected, resulting in short stature that becomes evident in early childhood.

Individuals with CPHD may experience hypothyroidism, a condition where the thyroid gland (located in the neck) is underactive. Hypothyroidism can lead to symptoms such as weight gain and tiredness. Additional symptoms of CPHD can include delayed or absent puberty and infertility. Some individuals may also have a cortisol deficiency, which weakens the immune system, making them more prone to infections.

In rare instances, CPHD can be linked to intellectual disability, a short and rigid neck, or underdeveloped optic nerves (which transmit visual information from the eyes to the brain).

Inheritance:

The majority of CPHD cases are sporadic, meaning they arise without any family history of the condition. Less frequently, CPHD can be inherited. Familial cases can follow either an autosomal dominant or autosomal recessive inheritance pattern. Autosomal dominant inheritance requires only one altered gene copy in each cell to cause the disorder. Autosomal recessive inheritance requires both gene copies in each cell to have mutations. In autosomal recessive inheritance, the parents of an affected individual each carry one copy of the mutated gene but usually don't exhibit any signs or symptoms of the condition themselves. Autosomal recessive inheritance is the more common pattern in familial cases of CPHD.