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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.

Place of publishing:

Kraków

Level of degree:

2 - studia doktoranckie

Degree discipline:

endokrynologia ; pediatria

Degree grantor:

Uniwersytet Jagielloński. Collegium Medicum. Wydział Lekarski.

Promoter:

Jerzy Starzyk

Date issued:

2015

Format:

application/pdf

Identifier:

oai:dl.cm-uj.krakow.pl:4094

Call number:

ZB-124683

ControlNumberVIRTUA:

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Language:

pol

Access rights:

tylko w bibliotece

Location of original object:

Biblioteka Medyczna Uniwersytetu Jagiellońskiego- Collegium Medicum

Object collections:

Last modified:

May 24, 2021

In our library since:

Jun 8, 2016

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12

Number of object content views in PDF format

12

All available object's versions:

http://dl.cm-uj.krakow.pl:8080/publication/4094

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ZB-124683 May 24, 2021
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