ABSTRACT The 48,XXYY syndrome is a rare sex chromosome aneuploidy associated with diverse physical, developmental, and endocrine abnormalities. This case report highlights a 15-year-old male with 48,XXYY syndrome presenting with hypopituitarism and a Rathke’s cleft cyst, offering insights into the interplay between genetic syndromes and pituitary dysfunction. The patient exhibited hyperprolactinemia, central hypothyroidism, central hypoadrenalism, and elevated gonadotropin levels. Brain magnetic resonance imaging revealed a cystic lesion within the sella turcica, consistent with a Rathke’s cleft cyst. The patient also […]

ABSTRACT Objective: To compare the results obtained by the classic and molecular methodology in the analysis of products of conception, the advantages and disadvantages of each method. Methods: Retrospective non-randomized analysis of results obtained from product of conception samples submitted to genetic evaluation, from 2012 to 2017. The evaluations were performed using cytogenetics and/or chromosomal microarray analysis or arrays. Results: Forty samples were analyzed using classic cytogenetics, of which 10% showed no cell growth, 50% had normal results and 40% […]