Pituitary Morphology in Patients with Combined Pituitary Hormone Deficiency
Due to PROP1 Gene Mutations
Vosáhlo J.1, Srp A.2, Pfaeffle R. W.3, Stobbe H.3, Novotná D.4, Zapletalová J.5, Černá J.6, Kalvachová B.7, Weiss V.8, Hána V.8, Lebl J.1
Klinika dětí a dorostu 3. LF UK a FN Královské Vinohrady, Praha1 přednosta prof. MUDr. J. Lebl, CSc. Radiodiagnostická klinika 3. LF UK a FN Královské Vinohrady, Praha2 přednosta doc. MUDr. M. Köcher, PhD. Universitätsklinik und Poliklinik für Kinder und Jugendliche, Leipzig, SRN3 přednosta prof. Dr. Med. W. Kiess II. dětská klinika LF MU a FN, Brno4 přednosta prof. MUDr. Z. Doležel, CSc. Dětská klinika LF UP a FN, Olomouc5 přednosta prof. MUDr. V. Mihál, CSc. Klinika dětského lékařství, Fakultní nemocnice s poliklinikou, Ostrava6 přednosta MUDr. J. Slaný, CSc. Endokrinologický ústav, Praha7 ředitel doc. MUDr. V. Hainer, CSc. III. interní klinika 1. LF UK a VFN, Praha8 přednosta prof. MUDr. Š. Svačina, DrSc. |
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Summary:
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
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