Publications by authors named "Dipanjana Datta"
Article Synopsis
- Hypercalcemia in infants can show various symptoms and its causes change with age; this case involves an infant with nephrocalcinosis and kidney stones.
- The diagnosis was primary hyperoxaluria (PH) type 2, a rare metabolic disorder, linked with hypercalcemia, which hasn't been documented before.
- A 9-month-old girl was hospitalized due to a urinary tract infection and was found to have bilateral nephrocalcinosis and a specific genetic mutation, marking a first-ever report of this genetic condition associated with hypercalcemia.
Article Synopsis
- 46, XX testicular differences of sex development (DSD) is a rare condition where individuals have male phenotypes despite having XX chromosomes, and this case study focuses on an SRY-negative variant.
- A 3½-year-old child presented with ambiguous genitalia and, after genetic testing, was diagnosed with SRY-negative 46, XX testicular DSD and identified a specific genetic mutation in the NR5A1 gene.
- This case is significant because it emphasizes the need for further research into underexplored cases of SRY-negative 46, XX testicular DSD, contributing valuable data and insights to the medical community.
Aromatase (CYP19A1) is the only enzyme known to catalyse the conversion of androgen to estrogen. Aromatase deficiency occurs due to mutation in gene which has an autosomal recessive inheritance pattern. It leads to decrease in estrogen synthesis and delayed epiphyseal closure, eunuchoid habitus and osteopenia.
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