Controlled ovarian stimulation and IVF pregnancy in a trisomy X carrier with associated hypogonadotropic hypogonadism

Claudia Massarotti, Patrizia Fiorio, Roberto Gastaldi, Lucia Rosaia De Santis, Daniela Pastorino, Valentino Remorgida, Paola Anserini

Research output: Contribution to journalArticlepeer-review

Abstract

We describe successful controlled ovarian stimulation (COS) and the first known IVF pregnancy in a trisomy X carrier with associated hypogonadotropic hypogonadism (HH) linked to a chromosome 4 double mutation in the allele of the Gonadotropins Releasing Hormone receptor (GnRHr) gene. Previous administration of low dose of gonadotropins, as recommended in patients with HH, led to poor follicular recruitment. Since trisomy X is a risk factor for diminished ovarian reserve (DOR) and premature ovarian insufficiency (POI), higher doses of gonadotropins led to better ovarian response. The report readknowledges the importance of a correct genetic evaluation in a competent laboratory as a reliable base for treatment planning in this kind of patients.

Original languageEnglish
Pages (from-to)763-765
Number of pages3
JournalGynecological Endocrinology
Volume33
Issue number10
DOIs
Publication statusPublished - Oct 2017

Keywords

  • Journal Article

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