Combined pituitary hormone deficiency (CPHD) is associated with multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Clinical presentation of CPHD 1 is variable, the symptoms include 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. Also in some cases severe mental retardation along with short stature may present. Diagnosis of CPHD is based on testing for deficient secretion of GH, TSH, LH, FSH, PrL, and ACTH. CPHD is treated with an appropriate replacement of hormone deficiencies. Also strict follow-up is necessary because patients may develop new deficiencies.
Gat-Yablonski et al. (2002) described a highly consanguineous Arab family, in which two siblings suffered from Familial Combined Pituitary Hormone Deficiency. The patients showed intrauterine growth retardation. One of the siblings had a full deficiency of GH and TSH, while the other one had only GH deficiency. The siblings were found to carry a novel mutation in the PIT-1 gene that affected a conserved residue.
Pernasetti et al. (1998) described seven children from three independent Saudi families with combined pituitary hormone deficiency. All affected children presented with congenital hypothyroidism and early growth failure. They all were GH-, PRL-, and TSH- deficient. All seven children were treated with L-T4 from early infancy, and GH therapy which started between the age of four months and three years.