Abnormal dynamics of growth hormone after thyrotropin-releasing hormone loading test, gonadotropin-releasing hormone loading test, and oral glucose tolerance test in mixed gonadal dysgenesis with a pituitary lesion

Introduction: In mixed gonadal dysgenesis or X/XY gonadal dysplasia, the axis of hypothalamus-pituitary-reproductive organ is usually maintained. Case Report: We report a 29-year-old woman of mixed gonadal dysgenesis with abnormal growth hormone (GH) dynamics after thyrotropin-releasing hormone loading test, gonadotropin-releasing hormone loading test, and oral glucose tolerance test and a pituitary lesion. Conclusion: The abnormal dynamics of pituitary hormone, especially GH, and the existence of a pituitary lesion in mixed gonadal dysgenesis is a rare event.


INTRODUCTION
The mixed gonadal dysgenesis or X/XY gonadal dysplasia in a woman is one of the major issues related to primary amenorrhea. The axis of hypothalamus-pituitary-reproductive organ is usually maintained in this disease. An abnormal dynamics of growth hormone (GH), and the existence of a pituitary lesion in mixed gonadal dysgenesis has not been reported previously. We present the endocrinological characteristics of a patient with mixed gonadal dysgenesis who had a pituitary lesion and abnormal dynamics of GH.

CASE REPORT
A 29-year-old woman was admitted to Teikyo  0, 15, 30, 60, 90 and 120 min after loading. Magnetic resonance imaging (MRI) revealed a low signal intensity lesion that was less enhanced by gadolinium diethylenetriamine pentaacetic acid (Gd-DTPA) in pituitary gland, which suggested the presence of a pituitary adenoma (Figure 1).
These studies suggested that the patient had primary amenorrhea with abnormal dynamics of GH and a pituitary lesion. Gynecological studies revealed bilateral fibrous ovaries. Chromosomal analysis of peripheral white blood cell (G-banding) disclosed mosaic chromosomes of 47XXY and 45X, which suggested that the patient had X/XY gonadal dysplasia. The fibrous ovaries were surgically removed for prophylaxis of gonadal tumors.

DISCUSSION
Mixed gonadal dysgenesis or X/XY gonadal dysplasia in a woman is one of the major issues related to primary amenorrhea. The first step of differential diagnosis of patients with amenorrhea is the discrimination of primary or secondary amenorrhea. The elevated serum FSH and LH levels suggest that the patient has primary amenorrhea. However, when the patient has abnormality in pituitary hormone  secretion, as shown in the present case, this condition may be somewhat confusing, because hyperprolactinemia, abnormal dynamics of GH, and the presence of pituitary lesion may derange menstrual rhythm.
In mixed gonadal dysgenesis or X/XY gonadal dysplasia, the axis of hypothalamus-pituitaryreproductive organ is usually maintained. The cause of the abnormal dynamics of GH in this case cannot be determined. Nevertheless, it may be evoked by a GHsecreting adenoma, although the pathology of pituitary lesion is not verified. Clinically silent somatotroph adenoma has been reported by several investigators, and this condition frequently has menstrual disorder [1][2][3][4][5][6][7][8][9][10].

CONCLUSION
The abnormal dynamics of pituitary hormone, especially GH, and the existence of a pituitary lesion in mixed gonadal dysgenesis or X/XY gonadal dysplasia is a rare event. *********

Author Contributions
Akira Matsuno -Conception and design, Acquisition of data, Analysis and interpretation of data, Drafting the article, Critical revision of the article, Final approval of the version to be published So Yamada -Conception and design, Acquisition of data, Analysis and interpretation of data, Critical revision of the article, Final approval of the version to be published Shoko M. Yamada -Conception and design, Acquisition of data, Analysis and interpretation of data, Drafting the article, Critical revision of the article, Final approval of the version to be published Hiroshi Nakaguchi -Conception and design, Acquisition of data, Analysis and interpretation of data, Critical revision of the article, Final approval of the version to be published Katsumi Hoya -Conception and design, Acquisition of data, Analysis and interpretation of data, Drafting the article, Critical revision of the article, Final approval of the version to be published Mineko Murakami -Conception and design, Acquisition of data, Analysis and interpretation of data, Critical revision of the article, Final approval of the version to be published

Guarantor
The corresponding author is the guarantor of submission.