Endocrine Abstracts

Introduction: Hand-Foot-Uterus Syndrome (HFUS) is a rare genetic condition. It is characterized by abnormalities of the hand, foot, reproductive tract, and urinary tract. There are also wrist- and ankle-bone fusions, very small feet, short great toes, urinary-tract abnormalities, duplications of the reproductive tract in women, urethral openings on the underside of the penis in men, and curved penis. The genetic associations of HFUS is not fully understood. It seems that the most cases of HFUS is caused by a mutation in HOXA13, but other genes may be involved.

Case: We present a 27-years-old woman who had a history of secondary amenorrhea for several years. On physical examination, her secondary sexual chacteristics were normal, but she had strabismus and small feet and hands, as well as clinodactyly. We referred her to Genetic Department. X rays of the hands and feet, and imaging of reproductive tract were performed. On x-rays, clinodactyly, traphesium/scaphoid fusion and fusions of other bones in hands, and shortened thumbs were detected. On ultrasonography and MRI, There were bicornate uterus and bilateral ovarium hypoplasia of reproductive tract. Serum Luteinizing hormone and Follicule stimulating hormone were elaveted to 50.5 IU/L and 114 IU/L, respectively and estradiol level was low to 20 ng/ml. Other pituitary hormones and laboratory findings were within normal ranges. She had a normal karyotype(46XX). MRI of pituitary gland was normal. After above-mentioned physical and radiological examination, diagnosis of HFUS was obtained. In addition to these, she had a secondary amenorrhea along with HFUS.

Conclusion: It is very often observed the case of amonerrhea at endocrinologic clinics. The ethiological reasons are generally similar and caused by over or pituitary disorders. However as we present in our case that the amonerrhea could accompany to other syndrome. To our best knowledge that this is the first case of HFUS associated to amonerrhea.