Pituitary Morphology in Patients with Combined Pituitary Hormone Deficiency Due to PROP1 Gene Mutations

Czech version

Authors: J. Vosáhlo ¹; A. Srp ²; R. W. Pfaeffle ³; H. Stobbe ³; D. Novotná ⁴; J. Zapletalová ⁵; J. Černá ⁶; B. Kalvachová ⁷; V. Weiss ⁸; V. Hána ⁸; J. Lebl ¹
Authors‘ workplace: Klinika dětí a dorostu 3. LF UK a FN Královské Vinohrady, Praha přednosta prof. MUDr. J. Lebl, CSc. ¹; Radiodiagnostická klinika 3. LF UK a FN Královské Vinohrady, Praha přednosta doc. MUDr. M. Köcher, PhD. ²; Universitätsklinik und Poliklinik für Kinder und Jugendliche, Leipzig, SRN přednosta prof. Dr. Med. W. Kiess ³; II. dětská klinika LF MU a FN, Brno přednosta prof. MUDr. Z. Doležel, CSc. ⁴; Dětská klinika LF UP a FN, Olomouc přednosta prof. MUDr. V. Mihál, CSc. ⁵; Klinika dětského lékařství, Fakultní nemocnice s poliklinikou, Ostrava přednosta MUDr. J. Slaný, CSc. ⁶; Endokrinologický ústav, Praha ředitel doc. MUDr. V. Hainer, CSc. ⁷; III. interní klinika 1. LF UK a VFN, Praha přednosta prof. MUDr. Š. Svačina, DrSc. ⁸
Published in: Čes-slov Pediat 2005; 60 (6): 338-344.
Category: Original Papers

Overview

PROP1 gene mutations lead to multiple pituitary hormone deficiency including impaired secretion of growth hormone, TSH, prolactin, FSH/LH and ACTH. An additional typical feature is abnormal pituitary morphology. The findings may range from pituitary hypoplasia or empty sella to pituitary hyperplasia that may imitate an intrasellar expansion.

Within a Czech national study, the PROP1 gene defect was found in 17 patients with multiple pituitary hormone deficiency (9 males, 8 females; age 3.5–74 years) including 3 pairs of siblings.

A detailed morphological evaluation using imaging techniques showed pituitary hypoplasia or empty sella in ten subjects, normal pituitary in one and various degrees of pituitary hyperplasia in six. The distribution of findings according to age at first examination supports the hypothesis on pituitary hyperplasia within the first years of life, followed by a spontaneous regression leading to pituitary hypoplasia or empty sella.

Key words:
PROP1, growth hormone deficiency, multiple pituitary hormone deficiency, magnetic resonance imaging, empty sella