Congenital Deficiency of Growth Hormone and Prolactin

Abstract

The case is presented of a 25-year-old woman with congenital deficiency of growth hormone (GH) and prolactin (PRL). Her height was 108cm (-9.98 standard deviation (SD)) on admission. She had a bulging forehead and a small nose with a retracted bridge. Basal levels of GH and PRL were low. In stimulation tests of GH secretion, no responses were observed. In a thyrotropin-releasing hormone (TRH) loading test, the response of PRL was poor but that of thyrotropin (TSH) was normal. The levels of other pituitary hormones were normal. magnetic resonance imaging (MRI) of the brain revealed no abnormalities. In examination of the pituitary-specific transcription factor (Pit-1/GHF-1) (Pit-1) gene in this patient by the polymerase chain reaction-single-strand conformation polymorphism (PCR-SSCP) and deoxy ribonucleic acid (DNA) sequencing analysis, neither mutations nor deletions were detected.