Growth hormone deficiency
The height of the child is two standard deviations lower than the average height of the same area, the same race, the same sex, and the normal age of the same age, or the height is less than the third percentile of the height of the child. The diagnosis is short.
GHD is one of the common reasons for short stature, and short stature can have adverse effects on children’s work, study, marriage, life and psychology.
In addition to the dystocia and the removal of intracranial organic lesions, the diagnosis of GHD must rely on two hGH stimulation tests. Those with hGH peaks below 5 ng/ml are complete GHD, while those with 5 ng/ml are between 5-10 ng/ml. For partial GHD.
Common causes of growth hormone deficiency
Pituitary dysplasia: forebrain non-cracking malformation, visual-middle dysplasia, cleft palate, hypothalamic dysplasia, growth hormone, growth hormone releasing hormone deficiency
Idiopathic: Unexplained growth hormone deficiency Autosomal recessive inheritance: Type IA: GH1 gene deletion
Type IB: Growth hormone releasing hormone receptor gene deletion Autosomal dominant inheritance: Type II: GH1 and other genetic variants X-linked inheritance: Type III
Transcription factor gene defects: pit1, Prop1, HESX-1, LHX3 gene mutations, etc. Growth hormone receptor deficiency: Laron syndrome
Insulin-like growth factor (IGF-1) deficient brain injury: perinatal injury (dystocia, ischemia, hypoxia, intracranial hemorrhage, etc.) Invasive brain lesions: Tumor, Langrehans cell hyperplasia Other: less than gestational age, Chromosomal abnormalities, skeletal development disorders, chronic systemic diseases
Basic medical history and auxiliary examination
• Male, date of birth: 1996 12 31, Hebei February 12, 2009 (12 years old and February), complained of a short
• G1P1, full-term head position without hypoxic asphyxia, birth weight 5-6 kg, length unknown • Breastfeeding 1 year old, edentulous speech is no different from children of the same age and gender
• 1 year old or 2 years old is unknown, 6 years old first class is in the first row • Nearly one year long height 2-3cm
• Diet, no picky eaters, normal exercise capacity but less active exercise • No signs of secondary sexual development such as unvoiced, no beard and morning bleed
• Past history: Corneal transplantation for left eye trauma at 2 years of age, no history of febrile seizures, no history of infectious diseases such as hepatitis B tuberculosis
• Mother 155cm, father 163cm, non-close relatives get married
• Family history: related relatives who are tall and short (male <160, female <150).
• Height 130.8cm (-3.1SD); weight 28kg
• The skin is dry, the thyroid is not big, the heart and lungs (-), the liver and spleen (-) are not swollen in the lower limbs. • The pubic hair is 1 phase, the double testicles are 1 ml each, the penis is 3 cm long, and the circumference is 4.5 cm.
Insulin hypoglycemia GH stimulation test (on)
Levo-multi-growth hormone stimulation test (below)
Bone age and saddle area NMR
Bone age: 7-8 years Pituitary NMR: normal pituitary size; pituitary posterior lobe high signal; pituitary stalk centered.
Diagnosis and treatment
Diagnosis: partial deficiency of growth hormone (PGHD) short stature
Diagnose based on:
• 1 height <-3SD (children of the same age and same gender), GV=2.5cm/y • 2 bone age (7-8 years old) < CA (12.3 years old)
• 3 growth hormone stimulation tests GHmax = 6.2ng / ml <10ng / ml
Treatment: 3 units of growth hormone per night before bedtime; increase exercise (aerobic exercise), balanced diet, quality sleep; regular follow-up, monitor height, review IGF-1, thyroid function, blood biochemistry.
• Normal thyroid function (-)
• Liver and kidney function (-), fasting blood glucose normal • Blood routine (-), normal hemoglobin
• No facial changes during treatment, no swelling of hands and feet and eyelids, no leg pain and joint pain, no swelling and inflammation of the injection site
• Outpatient visits in July 2012 (15 years and July) (GH treatment for 39 months):
Height 156.5cm, weight 40kg, double testicles about 1ml bone age: 12-13 years old
• Give 8 units of serostim growth hormone and continue treatment.