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Screening for PIT1 abnormality by PCR direct sequencing method

Y Irie¹, K Tatsumi, S Kusuda

¹Department of Laboratory Medicine, Osaka University Medical School, Japan.

Thyroid : Official Journal of the American Thyroid Association

|June 1, 1995

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Genetic analysis of the PIT1 gene in patients with hormone deficiencies revealed a de novo mutation in one case. PIT1 gene abnormalities are not a common cause of growth hormone deficiency.

Area of Science:

Genetics
Endocrinology
Molecular Biology

Background:

PIT1 gene mutations cause deficiencies in pituitary hormones like TSH, GH, and PRL.
These deficiencies can be complete or incomplete, occurring in familial or sporadic cases.

Purpose of the Study:

To investigate PIT1 gene abnormalities in patients with incomplete TSH, GH, and PRL deficiency.
To determine the frequency of PIT1 gene mutations in combined pituitary hormone deficiency.

Main Methods:

Utilized PCR direct sequencing to analyze the Pit-1/GHF-1 coding sequence.
Studied 15 patients with various forms of pituitary hormone deficiencies.

Main Results:

A de novo Arg-271-Trp mutation in the PIT1 gene was identified in one patient with combined pituitary hormone deficiency.

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No PIT1 gene mutations were found in the remaining 14 patients studied.

Conclusions:

PIT1 gene abnormality is not a frequent cause of GH deficiency.
Genetic screening of the PIT1 gene is important for diagnosing rare cases of combined pituitary hormone deficiency.