Androgen insensitivity syndrome is an X-linked recessive condition resulting in a failure of normal masculinization of the external genitalia in a chromosomally male individual. We describe two phenotypically female siblings aged 27 and 18 years, who presented with primary amenorrhea. The older sibling first consulted because of her desire to be pregnant while her younger sibling consulted upon the physician’s advice. Clinical presentation, physical examination, hormonal and imaging studies and a male (46XY) karyotype confirmed the diagnosis of Complete Androgen Insensitivity Syndrome (AIS) in both individuals. Both of them underwent exploratory laparotomy with histopathology confirming presence of immature testicular tissue. Hormone replacement therapy was then started. Both were advised to undergo psychosocial counseling and both chose to be women. This case report is significant since there are only a few local case reports about siblings presenting with this condition.
Androgen-Insensitivity Syndrome ; Karyotyping

Objective: To determine the accuracy of the chloride-phosphate ratio in the screening for primary hyperparathyroidism in calcium stone formers.Methods: Forty six subjects with nephrolithiasis were included in the study. Clinical and biochemical profiles of each patient were reviewed. Non-fasting blood was extracted for serum chloride and phosphate and compared with ionized calcium and intact parathyroid hormone (PTH) as the reference standard. The sensitivity, specificity, and likelihood ratios of the test against reference standard for the diagnosis of primary hyperparathyroidism (PHPT) were computed, as well as the receivers' operator curves.Results: Among the 46 subjects, 17 were recognized as positive biochemically for PHPT. Among calcium stone formers, the ratio of chloride and phosphate of greater than or equal to 33 has a sensitivity of 70.6% and specificity of 62.1% when compared with ionized calcium and PTH in the screening of PHPT in calcium stone formers. Using the ROC analysis, the best cut-off is at 32.4 while a cut-off of 27.98 has the best sensitivity of 94.12% (95% CI, 71.3-99.9).Conclusion: Among calcium stone formers, the chloride-phosphate ratio greater than or equal to 28 may be used for screening for PHPT with a sensitivity of 94%. It may be considered in the selection of patients for PTH assay or situations where PTH assay is not available.
Hyperparathyroidism, Primary ; Nephrolithiasis