Long-Term Follow-Up and Treatment of a Female With Complete Estrogen Insensitivity.

The Journal of Clinical Endocrinology and Metabolism
Soumia BraktaLawrence C Layman

Abstract

We previously reported the first female with a causative ESR1 gene variant, who exhibited absent puberty and high estrogens. At age 15 years, she presented with lower abdominal pain, absent breast development, primary amenorrhea, and multicystic ovaries. The natural history of complete estrogen insensitivity (CEI) in women is unknown. The purpose of this report is to present the neuroendocrine phenotype of CEI, identify potential ligands, and determine the effect of targeted treatment. We have characterized gonadotropin pulsatility and followed this patient's endocrine profile and bone density over 8 years. Seventy-five different compounds were tested for transactivation of the variant receptor. A personalized medicine approach was tailored to our patient. Academic medical center. A 24-year-old adopted white female with CEI. The patient was treated with diethylstilbestrol (DES) for approximately 2.5 years. Induction of secondary sexual characteristics. Luteinizing hormone (LH) pulse studies demonstrated normal pulsatile LH secretion, elevated mean LH, and mildly elevated mean follicle-stimulating hormone (FSH) in the presence of markedly increased estrogens. DES transactivated the variant ESR1 in vitro. However, DES treatment d...Continue Reading

References

Jan 1, 1986·Journal of Steroid Biochemistry·S GreenP Chambon
Dec 1, 1985·Proceedings of the National Academy of Sciences of the United States of America·P WalterM Waterfield
Nov 1, 1982·American Journal of Obstetrics and Gynecology·C A MashchakD R Mishell
Feb 1, 1984·The Journal of Clinical Endocrinology and Metabolism·M R SoulesW J Bremner
Oct 20, 1994·The New England Journal of Medicine·E P SmithK S Korach
Dec 1, 1993·Proceedings of the National Academy of Sciences of the United States of America·D B LubahnO Smithies
Dec 15, 1995·Cell·D J MangelsdorfR M Evans
Nov 5, 1997·Acta Obstetricia Et Gynecologica Scandinavica·J T ChristensenJ G Westergaard
Dec 23, 1998·Proceedings of the National Academy of Sciences of the United States of America·J H KregeO Smithies
Jun 1, 2000·Gynecologic Oncology·E J PavlikJ R van Nagell
May 8, 2002·The Journal of Clinical Endocrinology and Metabolism·Sabrina GillJanet E Hall
Jun 7, 2003·Menopause : the Journal of the North American Menopause Society·Karen OppermannPoli Mara Spritzer
Aug 15, 2003·The Cochrane Database of Systematic Reviews·A A Bamigboye, J Morris
Feb 27, 2004·Osteoporosis International : a Journal Established As Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA·Yvette M HenryRichard Eastell
Aug 21, 2004·Seminars in Reproductive Medicine·Susan J Gregory, Ursula B Kaiser
Dec 14, 2006·The Journal of Clinical Endocrinology and Metabolism·Lin LinJohn C Achermann
Apr 5, 2007·Molecular Endocrinology·Premlata KumarPhilip W Shaul
Apr 21, 2007·Seminars in Reproductive Medicine·Robert X-D Song
May 29, 2008·The Journal of Clinical Endocrinology and Metabolism·Eric P SmithKenneth S Korach
Dec 30, 2010·Current Drug Metabolism·Judy L Raucy, Jerome M Lasker
Jan 23, 2013·Clinical Genetics·M AsadiN Matin
Jul 12, 2013·The New England Journal of Medicine·Samuel D QuaynorLawrence C Layman
Oct 12, 2013·Annual Review of Medicine·Subhamoy DasguptaBert W O'Malley
Sep 14, 2014·Journal of the National Cancer Institute·Clara BodelonMark E Sherman
Jun 2, 2015·The Journal of Biological Chemistry·Yukitomo AraoKenneth S Korach
Jan 31, 2016·Journal of Molecular Endocrinology·Sylvia C HewittKenneth S Korach
Jun 22, 2016·Nucleic Acids Research·Marcela A BenneschDidier Picard
Nov 4, 2016·Nature Reviews. Molecular Cell Biology·Ellis R Levin, Stephen R Hammes
Mar 23, 2017·The Journal of Clinical Endocrinology and Metabolism·Hélène Bry-GauillardJacques Young
Dec 21, 2017·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Dorien BaetensElfride De Baere
Aug 17, 2018·The Journal of Clinical Endocrinology and Metabolism·Mariarosaria Lang-MuritanoAnna Biason-Lauber
Oct 26, 2018·Przegla̜d menopauzalny = Menopause review·Anna SzeligaBłażej Męczekalski

❮ Previous
Next ❯

Citations

Jan 5, 2021·Human Reproduction Update·Marwan HabibaGiuseppe Benagiano

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.