isolated growth hormone deficiency type IB

An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has_mate

An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has_material_basis_in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively.

Signs and symptoms

• Micropenis
• Short stature
• Reduced circulating growth hormone concentration
• Decreased response to growth hormone stimulation test
• Severe short stature
• Delayed skeletal maturation
• Anterior pituitary hypoplasia
• Decreased circulating insulin-like growth factor 1 concentration
• Impaired growth-hormone response to insulin stimulation test
• Acromicria

Also known as: IGHD IB; congenital IGHD type IB; congenital isolated GH deficiency type IB; congenital isolated growth hormone deficiency type IB; dwarfism of Sindh