Diagnosis of the Combination of Immune Thrombocytopenia and Woodhouse-Sakati Syndrome

Abstract

Woodhouse-Sakati Syndrome (WSS) is a rare autosomal recessive syndrome characterized by sensorineural hearing loss, ECG ST-T changes, partial alopecia, hypogonadism, diabetes, and moderate mental retardation. A 23-year-old male patient was admitted to our hospital with complaints of purpura and petechial rashes. His platelet count was 3.04 x 109/L and the peripheral blood smear was compatible with this count. No atypical cell was observed. He had mild mental retardation. He had hearing loss since childhood. Physical examination showed widespread petechiae and purpura on bilateral lower extremities. Significant growth retardation was detected and male pattern hair growth was less. In genital examination, bilateral testicles were small; penis length was 1 cm and it was 4 cm when elongated. T negativity was present in precordial derivations of ECG. He was diagnosed Immune thrombocytopenic purpura (ITP) and WSS according to these findings. In addition to ITP treatment with steroids, the combination of testosterone propionate and testosterone phenyl propionatewas also administered to him. Upon we observed that there was an increase in his platelet number, he was discharged from the hospital. WSS is a very rare disease. Different components of the syndrome have been reported in different patients.It is the first time in the literature that ITP is observedtogether with WSS in a male patient.