CASE PRESENTATION: We report an Indian boy diagnosed as variant of Klinefelter syndrome with 47 XXY/46 XX mosaicism at age 12 years. He was noted to have right cryptorchidism and chordae at birth, but did not have surgery for these until age 3 years. During surgery, the right gonad was atrophic and removed. Histology revealed atrophic ovarian tissue. Pelvic ultrasound showed no Mullerian structures. There was however no clinical follow up and he was raised as a boy. At 12 years old he was re-evaluated because of parental concern about his 'female' body habitus. He was slightly overweight, had eunuchoid body habitus with mild gynaecomastia. The right scrotal sac was empty and a 2mls testis was present in the left scrotum. Penile length was 5.2 cm and width 2.0 cm. There was absent pubic or axillary hair. Pronation and supination of his upper limbs were reduced and x-ray of both elbow joints revealed bilateral radioulnar synostosis. The baseline laboratory data were LH
METHODS: In this randomized, double-blind interventional study, diabetics with DED aged 18 to 60 years were randomly assigned to TI or standard artificial tears (SAT). Baseline Ocular Surface Disease Index (OSDI), Schirmer I test (ST), tear break-up time (TBUT), and ocular Sjögren's International Collaborative Clinical Alliance (SICCA) score were compared 4 weeks after treatment.
RESULTS: A total of 160 participants (involving 320 eyes) received either TI (n=80) or SAT (n=80). After 4 weeks of treatment, a significant number of participants in both TI and SAT groups showed improvement in their OSDI score, 66% and 63%, respectively (P=0.0001), but were not significantly better than each other (P=0.453). However, most participants in both groups showed worsening of ST and TBUT (P>0.05). Most of the participants in both groups showed no change in their ocular SICCA score (P>0.05).
CONCLUSION: The study has shown a significant and similar improvement in the OSDI score for TI 1 unit/drop four times daily and SAT in treating diabetics with DED. Further research is required to understand the long-term effects of TI on the ocular surface.