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Title: Phenotype evaluation of combine pituitary hormone deficiency caused by PROP1 gene mutation
Abstract:
Combine pituitary defficiency (CPHD) consists in deficiency of at least two hormones of the anterior pituitary lobe: GH, TSH, LH, FSH, ACTH. The aim of the study was to define the frequency of PROP1 mutations in a group of patients with CPHD, than to compare selected clinical features in CPHD patients with PROP1 mutation (CPHD- PROP1) and in patients with CPHD of different etiology (CPHD-non PROP1). The study group consisted of 74 patients with CPHD (32 ♀) in whom genetic analysis of PROP1 was performed. In 43 (23 ♀) mutation of gene PROP1 was found, and in 31 (9 ♀) no mutations were found. The most frequently found mutation (62 allels) was 301-302delAG and 149-150delAG (22 allels).Additionally, 2 less frequent mutations R99X and F117I were found. In the group of patients with CPHD-PROP1 less frequent complications in the course of pregnancy and delivery were found than in the group of patients with CPHD-non PROP1. Hypoglicemia in newborns was a main symptom only in 5. In none of them PROP1 mutation was found. In all girls from CPHD-PROP1 group we observed no breast development and in all boys there was no testis enlargement. Similar results were obtained in 92% of patients from CPHD-non PROP1.Secondary adrenal insufficiency in growth deficient patients with CPHD-PROP1 occured at later date than in patients with CPHD-non PROP1 (13,4 and 10,4 years). An enlarged pituitary gland ; was found more frequently in CPHD-PROP1 patients than in CPHD-non PROP1, and hypoplastic stalk and ectopic posterior lobe were diagnosed only in one CPHD-PROP1 patient. In 4 patients with CPHD-non PROP1 one could observe optic nerve hypoplasia unilateral or bilateral.
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Last modified:
Mar 16, 2023
In our library since:
Jun 8, 2016
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http://dl.cm-uj.krakow.pl:8080/publication/4094
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| Edition name | Date |
|---|---|
| ZB-124683 | Mar 16, 2023 |
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