Peters Syndrome and Hypogonadotropic Hypogonadism

Introduction Peters syndrome represent a complex variant phenotype which involves anterior part of the eye due to a development anomaly during embryonic stage occurred at the level of cornea, iris, and lens. A part from major ocular deficiency, the syndrome also is rarely related to other anomalies at the level of different organs including those of the hypothalamic-pituitary-ovarian axes but these are atypical and do not represent the traditional phenotype. Material and Method This is a case report of a young female diagnosed with Peter's syndrome and hypogonadotropic hypogonadism which was recognised at the age of physiological puberty and it was followed by a spontaneous remission after a few years. Results (cases' data): A 22-year-old female is diagnosed during childhood with multiple eye anomalies which are classified as Peter's syndrome -she had right amblyopic eye due to retinal coloboma associated with partial amputation of left visual field due to peri-papillary pigmentation. She is admitted to the Department of Gynaecology and later of Endocrinology for delayed puberty with partial response to agonist of Gonadotrope Releasing Hormone, suggestive for hypogonadotropic hypogonadism. Initially, the menses were induced by using estro-progestives from the age of 14 to 16 years without spontaneous menses resumption. But, after a few months withdraw of any hormonal medication, she had menses without further intervention and confirmed by normal levels of gonadotrophs. She also associates a non-functioning pituitary adenoma without mass effects (under the circumstances of difficult interpretation of eye exam due to Peter's anomalies). Conclusion Peters syndrome associated with hypogonadotropic hypogonadism with late onset remission is extremely rare; it is difficult to say if a common genetic background is actually shared by the two conditions.