0000000000185617
AUTHOR
Céline Bonnet
Fertilité chez la femme McCune Albright : une étude de cas axée sur l’AMH en tant que marqueur du dysfonctionnement ovarien et revue systématique
La plupart des filles porteuses d’un syndrome de McCune Albright (SMA) presentent une puberte precoce, causee par le developpement de kystes ovariens responsables d’une hyperestrogenie. Apres la puberte, peuvent etre retrouves troubles du cycle et infertilite. Nous avons souhaite faire le point sur la fertilite et la grossesse chez les femmes presentant un SMA, par un report de cas detaille et une revue exhaustive de la litterature. Nous presentons le cas d’une femme infertile, unilateralement ovariectomise, prise en charge par FIV. La stimulation a necessite des doses elevees de FSH. Huit ovocytes avec de nombreuses anomalies morphologiques ont ete recuperes, avec developpement de 4 embryo…
Fertility in McCune Albright syndrome female: A case study focusing on AMH as a marker of ovarian dysfunction and a literature review.
Abstract Background The molecular basis of McCune Albright syndrome (MAS) is a recurrent GNAS Postzygotic gain of function sporadic mutation, resulting in a mosaic disease. Most of girls present precocious puberty, caused by the development of recurrent ovarian cysts with autonomous Hyperestrogenic stimulation. After menarche, the majority of patients with ovarian GNAS mutation have menstrual disturbances and infertility. Objectives We wanted to focus on the fertility of MAS females and propose an appropriate management, by a detailed case report and an exhaustive review of the literature on fertility and pregnancy in MAS females. Results We present the case of a 29-year-old MAS female, who…
Homozygous Truncating Intragenic Duplication in TUSC3 Responsible for Rare Autosomal Recessive Nonsyndromic Intellectual Disability with No Clinical or Biochemical Metabolic Markers
Intellectual disability (ID), which affects around 2–3% of the general population, is classically divided into syndromic and nonsyndromic forms, with several modes of inheritance. Nonsyndromic autosomal recessive ID (NS-ARID) appears extremely heterogeneous with numerous genes identified to date, including inborn errors of metabolism. The TUSC3 gene encodes a subunit of the endoplasmic reticulum (ER)-bound oligosaccharyltransferase complex, which mediates a key step of N-glycosylation. To date, only five families with NS-ARID and TUSC3 mutations or rearrangements have been reported in the literature. All patients had speech delay, moderate-to-severe ID, and moderate facial dysmorphism. Micr…