Familial combined pituitary hormone deficiency caused by PROP-1 gene mutation. Growth patterns and MRI studies in untreated subjects

• Published in: Hormone research Vol. 57; no. 3-4; pp. 120 - 126
• Main Authors: Crone, J, Pfäffle, R, Stobbe, H, Prayer, D, Gomez, I, Frisch, H
• Format: Journal Article
• Language: English
• Published: Switzerland S. Karger AG 2002
• Subjects: Adolescent; Adult; Base Sequence; Child; DNA Primers; Female; Homeodomain Proteins - genetics; Humans; Male; Middle Aged; Mutation; Pituitary Gland - pathology; Pituitary Hormones - deficiency; Transcription Factors - genetics
• ISSN: 0301-0163; 1663-2818; 1663-2826
• DOI: 10.1159/000057962

Mutations of the prophet of PIT-1 (PROP-1), a paired-like homeodomain transcription factor which is responsible for early embryonic pituitary development, have recently been reported as a cause of combined pituitary hormone deficiency. We describe the phenotype, long-term auxological data and MRI findings in two families with 4 affected members, all of whom have a mutation of the PROP-1 gene. GH, TSH, PRL, LH and FSH were completely deficient in all patients. ACTH deficiency was not diagnosed until the 3rd or 4th decades of life. Pituitary MRI showed an empty sella in 2 subjects, but unspecific tissue accumulation resembling a pituitary mass lesion in another patient. The affected boy from family II who was continuously treated with all the necessary hormones reached the familial target height. However, the 3 subjects in family I were only treated sporadically (GH treatment lasting from 1 to 3 years). Despite this insufficient therapy, final height was in the lower normal range. Longitudinal growth continued up to the age of 40 years in these subjects.