Growth hormone deficiency in children

Case history #1

Parents of a 5-year-old boy have been increasingly worried about his height for the past 18 months. His height is well below the 0.4th centile (98 cm). His weight is on the 9th centile and midparental height is on the 50th centile. He has a small face with frontal bossing and a lot of fat around his abdomen. His height at 4 years 4 months was 95 cm and at 3 years 6 months was 93 cm, giving him a growth velocity that is suboptimal at 5 cm over 1.5 years. His two brothers are both of an "average height."

Case history #2

A 10-year-old girl presents with headaches and poor vision. At 9 years of age, an urgent magnetic resonance imaging scan of her brain revealed a suprasellar solid/cystic mass diagnosed as a craniopharyngioma. She was treated with surgery and cranial irradiation. Her pituitary evaluation 3 months later revealed a peak GH concentration (after glucagon provocation) of 0.3 micrograms/L, a peak serum cortisol concentration of 3 micrograms/dL, a peak thyroid-stimulating hormone concentration (after thyrotropin-releasing hormone stimulation) of 2.3 mU/L with a peak free thyroxine (T4) of 0.57 nanograms/dL, and a peak serum prolactin of 16 nanograms/mL. Her peak serum gonadotropin concentrations (after luteinizing hormone-releasing hormone stimulation) were 2.6 international units/L (follicle-stimulating hormone) and 1.9 international units/L (luteinizing hormone). A diagnosis of GHD with combined pituitary hormone deficiencies (CPHD) was made.

Other presentations

Acquired GHD

Acquired GHD may present with signs and symptoms due to the underlying cause: for example, nausea, vomiting, and headache with tumors affecting the hypothalamo-pituitary area.

Neonatal presentation

The clinical presentation of hypopituitarism and its severity in the neonatal period depend on the number of pituitary hormones affected. These patients can have associated genital abnormalities, eye malformations, and/or midline defects in the forebrain (with a diagnosis of septo-optic dysplasia or holoprosencephaly) or elsewhere (e.g., cleft palate, single central incisor), and can also present with evolving hormone deficiencies over time. If the optic pathways are involved, infants can also present with nystagmus, visual impairment, or other ophthalmologic abnormalities. Congenital GHD may present at birth, although more often presents later in life with growth failure.

The signs and symptoms of neonatal combined pituitary hormone deficiencies (CPHD) are essentially a combination of each individual pituitary hormone defect. Adrenocorticotropic hormone (ACTH) deficiency is life-threatening, and may present in the neonatal period or infancy with lethargy, poor feeding/weight gain, jaundice, recurrent sepsis, apnea, hypoglycemia, and hypotonia, with an early diagnosis being essential. Thyroid-stimulating hormone deficiency may manifest as temperature instability or prolonged neonatal jaundice. Gonadotropin deficiency may present in newborn boys with microphallus and bilateral undescended testicles, or later in adolescence with delayed or arrested puberty. Even if hypopituitarism is not recognized in the immediate neonatal period, a careful history at the time of diagnosis may indicate the presence of perinatal symptoms.