Search..

Validating credentials, please wait...
Author information:
Skordis N1,2,3, Ferrari E4, Antoniadou A4, Phylactou LA5, Fanis P5, Neocleous V5.
Author information
1 Division of Pediatric Endocrinology, Paedi Center for Specialized Pediatrics, 178 Athalassas Ave., 2025, Nicosia, Cyprus. nicosskordis@paedi.org.cy.
2 St George’s, University of London Medical School at the University of Nicosia, Nicosia, Cyprus. nicosskordis@paedi.org.cy.
3 Department of Molecular Genetics, Function & Therapy, The Cyprus Institute of Neurology & Genetics, Nicosia, Cyprus. nicosskordis@paedi.org.cy.
4 St George’s, University of London Medical School at the University of Nicosia, Nicosia, Cyprus.
5 Department of Molecular Genetics, Function & Therapy, The Cyprus Institute of Neurology & Genetics, Nicosia, Cyprus.

Abstract
This case report describes a 47,XXX girl who presented very early, at the age of 14 months, with signs of sexual precocity (breast and pubic hair development, menarche) and was finally diagnosed with GnRH dependent precocious puberty with no evidence of underlying central nervous system pathology. Molecular testing did not identify any genetic defect in any of the genes tested (KISS1, KISS1R, DLK1 and the intronless MKRN3). Though previous studies have shown a link between karyotype 47,XXX and precocious puberty, this is the youngest patient reported so far. Treatment with GnRH analog was commenced and proved to be effective, indicating a successful suppression of the hypothalamic-pituitary-ovarian axis.

Translate »