isolated growth hormone deficiency type III

info · Endocrine · ICD-10: E23.0

An isolated growth hormone deficiency characterized by dwarfism, variable occurence of hypogammaglobulinemia, and a generally good response to growth hormone therapy that has_material_basis_in mutation in the BTK gene on chromosome Xq22.1.

Signs and symptoms

Short stature
Delayed skeletal maturation
Delayed puberty
Absent circulating B cells
Panhypogammaglobulinemia
Prostatitis
Hearing impairment
Infectious encephalitis
Septic arthritis
Enteroviral dermatomyositis syndrome

Also known as: Fleisher syndrome; IGHD III; X-linked IGHD; X-linked agammaglobulinemia and isolated growth hormone deficiency; X-linked hypogammaglobulinemia and isolated growth hormone deficiency