Search for: [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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