Characterization of Clinical Features in Patients with Growth Hormone, Prolactin and Thyroid Stimulating Hormone Deficiencies due to a Transcriptional Factor“Pit-1”Abnormality

Abstract

To define clinical features of a combined deficiency of growth hormone (GH), prolactin (PRL) and thyroid stimulating hormone (TSH) due to a Pit-1 abnormality, we analyzed 16 cases (7 males, 9 females) with the disease. All cases shared complete GH and PRL deficiencies. However, TSH deficiency was various in degree among patients. Ten patients from 8 families had manifested apparent symptoms of hypothyroidism in early infancy. Seven of the 10 patients with cretinism had mild or severe psychomotor retardation, indicating requirement of immediate initiation of thyroxine therapy. The size of the anterior pituitary gland in MR imaging was extremely hypoplastic in 8 patients of 7 families and normal in 4 patients of 3 families. Birth length in patients with the disease was shorter than that in normal newborns as described in isolated GH deficiency type 1A and in Laron dwarfism patients, indicating an effect of GH/insulin-like growth factor I (GH/IGF-I) on fetal growth. Birth weight and gestational period were normal on average. Severe growth retardation with a peculiar facial appearance due to severe GH/IGF-I deficiency became more distinct in the first year of life. All patients responded well to human GH (hGH) treatment and did not produce anti-hGH antibodies. The mean final height without hGH treatment was -9.7 standard deviation (SD).