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Published on: January 7, 2016
Diagnosis of severe growth hormone deficiency in the newborn
Gerhard Binder1, Karin Weber1, Nora Rieflin1
1Pediatric Endocrinology and Hormone Laboratory, University Children's Hospital, Tübingen, Germany.
Insights
Severe neonatal growth hormone deficiency (GHD) can cause recurrent hypoglycemia. Measuring GH content on newborn screening cards can accurately diagnose GHD, with a cutoff of 7.0 µg/L for term newborns.
Area of Science:
- Neonatal endocrinology
- Pediatric diagnostics
Background:
- Severe neonatal growth hormone deficiency (GHD) can lead to recurrent hypoglycemia, necessitating early diagnosis.
- Newborn screening cards offer a potential method for early GHD detection.
Purpose of the Study:
- To analyze growth hormone (GH) content in newborn screening cards from infants with severe GHD and healthy controls.
- To establish a reliable cutoff value for diagnosing severe GHD using screening cards.
Main Methods:
- GH levels were measured using a sensitive GH ELISA on screening cards from 25 infants with severe GHD and 281 healthy newborns.
- Severe GHD was defined by recurrent hypoglycemia with pituitary malformation or additional hormone deficiencies.
Main Results:
- Infants with severe GHD had significantly lower median GH concentrations (3.9 µg/L) compared to reference ranges (P < .001).
- A GH cutoff of 7.0 µg/L demonstrated high accuracy (90.0% sensitivity, 98.7% specificity) for diagnosing severe GHD in term newborns.
- Reference ranges for healthy preterm newborns differed from term newborns.
Conclusions:
- Newborn screening cards are valuable for early diagnosis of severe GHD.
- A GH content <7.0 µg/L on screening cards accurately identifies severe GHD in term newborns.
- Reference intervals for preterm infants require specific consideration.
Objective:
Severe neonatal growth hormone deficiency (GHD) can cause recurrent hypoglycaemia. Early diagnosis is warranted. The aim of the study was to analyse the GH content in screening cards of 25 affected and 281 healthy newborns.
Patients And Measurements:
A total of 110 screening cards from ill newborns were sent to us for measuring GH content by a highly sensitive GH ELISA. Clinical information was obtainable in 61 cases. Severe GHD was defined by the presence of recurrent hypoglycaemia with a significant pituitary malformation or two additional pituitary hormone deficiencies. Screening cards from 281 healthy newborns (34.0-37.9 weeks) were prospectively analysed.
Results:
In 25 newborns (5 preterm), the definition of severe GHD was fulfilled based on recurrent hypoglycaemia in combination with malformation of the pituitary or midline structures in 21 cases and combined TSH and ACTH deficiency in four cases. The median GH concentration of those affected with severe GHD was 3.9 µg/L (range: 1.1-11.8), significantly below the previously reported reference range (P < .001). A GH concentration of 7 µg/L was confirmed as the cut-off for term newborns with the best accuracy (90.0% sensitivity and 98.7% specificity). The 95% reference range for healthy preterm newborns (n = 151) was 7.6-47.1 µg/L (median: 20.3 µg/L).
Conclusions:
A GH content <7.0 µg/L in the newborn screening card confirms severe GHD with high accuracy. In preterm newborns, the lower limit of the reference interval was 0.6 µg/L higher than in term newborns. The newborn screening card is a valuable source for the very early diagnosis of GH deficiency.
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