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.