Pediatr. praxi. 2013;14(6):376-378
Is genetic testing in children with growth hormone deficiency clinically justified?
- Pediatrická klinika UK, 2. LF a FN v Motole, Praha
Pituitary development is governed by a series of transcriptional factors that firstly orchestrate morphogenesis of brain mid-line structures,
optic nerves, eyes and pituitary. Subsequently, five specialized cell lines differentiate to produce growth hormone, TSH, ACTH, FSH/LH
and prolactin over the life-span. About 25% of patients with multiple pituitary hormone deficiency have a recognizable genetic cause –
predominantly a PROP1 or POU1F1 gene defects that encode transcriptional factors PROP1 and POU1F1. Whereas in most hypopituitary
patients genetic testing does not substantially contribute to clinical diagnosis, in a PROP1 defect may bring significant information. These
patients may suffer from a benign tumor-like pituitary mass that retreats spontaneously. Genetic diagnosis may avoid an unnecessary
neurosurgical intervention. In addition, multiple PROP1-deficient patients suffer from a gradual decline of ACTH secretion. Therefore,
a prospective follow-up of pituitary functions may prevent serious complications resulting from unrecognized central adrenal insufficiency.
Keywords: pituitary, growth hormone, hypopituitarism, PROP1, magnetic resonance
Published: December 1, 2013 Show citation
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