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

doi:10.1080/09513590.2017.1323202

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

Risultato della ricerca: Contributo su rivista › Articolo in rivista › peer 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.

Lingua originale	Inglese
pagine (da-a)	763-765
Numero di pagine	3
Rivista	Gynecological Endocrinology
Volume	33
Numero di pubblicazione	10
DOI	https://doi.org/10.1080/09513590.2017.1323202
Stato di pubblicazione	Pubblicato - 3 ott 2017
Pubblicato esternamente	Sì

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10.1080/09513590.2017.1323202

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title = "Controlled ovarian stimulation and IVF pregnancy in a trisomy X carrier with associated hypogonadotropic hypogonadism",

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.",

keywords = "Controlled ovarian stimulation, genetics, hypogonadotropic hypogonadism, infertility, trisomy X",

author = "Claudia Massarotti and Patrizia Fiorio and Roberto Gastaldi and \{Rosaia De Santis\}, Lucia and Daniela Pastorino and Valentino Remorgida and Paola Anserini",

note = "Publisher Copyright: {\textcopyright} 2017 Informa UK Limited, trading as Taylor \& Francis Group.",

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doi = "10.1080/09513590.2017.1323202",

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T1 - Controlled ovarian stimulation and IVF pregnancy in a trisomy X carrier with associated hypogonadotropic hypogonadism

AU - Massarotti, Claudia

AU - Fiorio, Patrizia

AU - Gastaldi, Roberto

AU - Rosaia De Santis, Lucia

AU - Pastorino, Daniela

AU - Remorgida, Valentino

AU - Anserini, Paola

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N2 - 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.

AB - 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.

KW - Controlled ovarian stimulation

KW - genetics

KW - hypogonadotropic hypogonadism

KW - infertility

KW - trisomy X

UR - https://www.scopus.com/pages/publications/85019105040

U2 - 10.1080/09513590.2017.1323202

DO - 10.1080/09513590.2017.1323202

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JO - Gynecological Endocrinology

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IS - 10

ER -

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

Abstract

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