Aryl Hydrocarbon Receptor Interacting Protein (AIP) Gene Mutations in Acromegaly

Summary

Acromegaly is a rare disease caused by growth hormone (GH) secreting pituitary adenoma in more than 95% of cases. Acromegaly can be seen sporadically or may be associated with a variety of genetic syndromes such as Multiple Endocrine Neoplasia Type 1, Carney Complex, familial isolated pituitary adenoma (FIPA) and Mc-Cune Albright Syndrome. The accompanying features of these syndromes and family history are helpful in the differential diagnosis. Aryl hydrocarbon receptor (AHR)-interacting protein (AIP) gene mutations can be seen sporadically as well as in FIPA. But the prescience of the presence of AIP mutation is limited by positive family history and early-onset of acromegaly. Furthermore, the probability of the patient to be the index case of the family should not be ignored.

Screening for AIP gene mutation is recommended in patients with pituitary adenomas of childhood-onset, GH or prolactin secreting tumors who are diagnosed before the age of 30 years and positive family history in two or more family members according to present evidence in the literature. It is also known that AIP mutation is usually associated with more aggressive clinical behavior due to unclarified reasons.

The prevalence of AIP mutation in Turkish population and types of mutations have not been defined previously. The primary aim of the present study is to define the AIP gene mutation prevalence and the relation with clinical and tumour behaviour in a subgroup of Turkish acromegalic patients. If AIP gene mutation is detected in some patients, it will be possible to screen the family of the patient for the presence of AIP mutation or at least for the presence of pituitary adenoma.

Acromegalic patients who are followed in Erciyes University Medical School Department of Endocrinology will be enrolled into the study. After DNA isolation, each exon of AIP gene including splicing points will be reproduced by polymerase chain reaction (PCR) and will be analyzed for the presence of mutation by sequence analysis. The cases will be analyzed further in means of clinical features according to presence of AIP gene mutation.

The prevalence of AIP gene mutation, clinical reflection of presence of AIP mutation will be determined and genetic consultation will be given to the carriers of AIP gene mutation at the end of the study.

Conditions

• Acromegaly

Sponsors & Collaborators

• TC Erciyes University

  lead OTHER

Principal Investigators

• Zuleyha Karaca · Erciyes University Medical School Department of Endocrinology Kayseri/Turkey

• Serpil Taheri · Erciyes University Medical School Department of Medical Biology, Kayseri/Turkey

• Fahrettin Kelestimur · Erciyes University Medical School Department of Endocrinology Kayseri/Turkey

• Fatih Tanriverdi · Erciyes University Medical School Department of Endocrinology Kayseri/Turkey

• Kursad Unluhizarci · Erciyes University Medical School Department of Endocrinology Kayseri/Turkey

Eligibility

Min Age

18 Years

Sex

ALL

Healthy Volunteers

Yes

Timeline & Regulatory

Start

2012-11-30

Primary Completion

2014-08-31

Completion

2014-08-31

Countries

• Turkey (Türkiye)

Study Locations