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  3. Pituitary hormone deficiency - combined - 1

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Test Pituitary hormone deficiency - combined - 1

  • Pituitary hormone deficiency - combined - 1
  • Info

Description

Combined pituitary hormone deficiency (CPHD) in man denotes impaired production of growth hormone (GH) and one or more of the other 5 anterior pituitary hormones. Mutations of the POU1F1 gene in the human and Pit1 in the mouse are responsible for pleiotropic deficiencies of GH, prolactin (PRL), and thyroid-stimulating hormone (TSH), while the production of adrenocorticotrophic hormone (ACTH), luteinizing hormone (LH), and follicle-stimulating hormone (FSH) are preserved. In infancy severe growth deficiency from birth as well as distinctive facial features with prominent forehead, marked midfacial hypoplasia with depressed nasal bridge, deep-set eyes, and a short nose with anteverted nostrils and hypoplastic pituitary gland by MRI examination can be seen. Some cases present with severe mental retardation along with short stature.
Genes:
POU1F1
Disorders:
Metabolic Disorders
Clinical Utility:
Confirmation of a clinical diagnosis, Carrier testing in unaffected family members

Methods

Sanger sequencing - 850lv.

Description:
Delivery Time:
10 days
Sample:
2-5 Ml Venous Blood Sample / DNA sample
Alternative:

MLPA - 500lv.

Description:
Multiplex ligation-dependent probe amplification
Delivery Time:
10 days
Sample:
2-5 mL Blood - Lavender Top Tube
Alternative:
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