ESPE Abstracts (2015) 84 P-2-513

Pituitary

A Novel Mutation within the AVP Gene in an 18-Year-Old Male Patient with Kallmann Syndrome and Combined Pituitary Hormone Deficiency

Won Bok Choia, Soo Young Kimb, Lira Yoona, Young Mi Kima, Min-Jung Choa, Chang-Seok Kic, Sung Yoon Chod, Dong-Kyu Jind & Min Jung Kwaka

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aDepartment of Pediatrics, Pusan National University School of Medicine, Pusan National University Hospital, Busan, Republic of Korea; bDepartment of Pediatrics, Pusan National University School of Medicine, Pusan National University Children’s Hospital, Yangsan, Republic of Korea; cDepartment of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea; dDepartment of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea


Background: Kallmann syndrome is the most common form of hypogonadotropic hypogonadism and is associated with genes such as KAL1, KAL2, CHD7, NELF, PROK2, and PROKR2. Genetic factors in hypopituitarism are involved with the gene mutation of PROP1, POU1F1, HESX1, LHX3, LHX4, and PTX2. We found a novel mutation of the AVP gene in a Kallmann syndrome patient with hypopituitarism.

Case presentation: The patient, who was 18 years old, showed general weakness, short stature, and no puberty signs. His height and weight were 156 cm (<1 percentile) and 47 kg (<1 percentile). His testicular sizes were each 4 cc. Peak levels of GH, cortisol, LH, and FSH were found to be 0.4 ng/ml, 0.38 ug/dl, 1.31 mIU/ml, and 0.87 mIU/ml on a cocktail test. Therefore, he was diagnosed with GH deficiency, secondary adrenal insufficiency, and hypogonadotropic hypogonadism. In addition, the water deprivation test showed central diabetes insipidus. The sella MRI showed an absent olfactory bulb and pituitary stalk, a small anterior pituitary gland, and an ectopic posterior pituitary bright spot at the base of the hypothalamus. He also had anosmia. Thus, he was diagnosed with Kallmann syndrome. We performed whole exome sequencing and found a c.127C>G (p.Pro43Ala) mutation of the AVP gene. This mutation was not found in 100 normal control case, and it has not been reported yet. Although the relation between this mutation and the patient’s diseases is not clear, his father did not have this mutation.

Conclusion: We report a novel mutation of the AVP gene in a Kallmann syndrome patient with hypopituitarism through whole exome sequencing.

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