Conditions / Genetic
combined or isolated pituitary growth hormone deficiency 7
info · Genetic
A combined pituitary hormone deficiency that has_material_basis_in compound heterozygous mutation in the RNPC3 gene on chromosome 1p21.
Signs and symptoms
- Microcephaly
- Anterior pituitary hypoplasia
- Delayed skeletal maturation
- Short stature
- Decreased response to growth hormone stimulation test
- Postnatal growth retardation
- Frontal bossing
- Truncal obesity
- Abdominal obesity
Also known as: IGHD5; Isolated growth hormone deficiency type V