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Article ; Online: Differences in Sex Development (DSD) and related conditions: mechanisms, prevalences and changing practice.

Conway, Gerard S

International journal of impotence research

2022 Volume 35, Issue 1, Page(s) 46–50

MeSH term(s)	Prevalence ; Sexual Development ; Quality of Life
Language	English
Publishing date	2022-09-08
Publishing country	England
Document type	Journal Article ; Review
ZDB-ID	1034295-3
ISSN	1476-5489 ; 0955-9930
ISSN (online)	1476-5489
ISSN	0955-9930
DOI	10.1038/s41443-022-00606-z
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Article ; Online: Turner syndrome - growing pressure for more multidisciplinary clinics for adults and earlier diagnosis in children.

Conway, Gerard S

Climacteric : the journal of the International Menopause Society

2017 Volume 20, Issue 5, Page(s) 400–401

Language	English
Publishing date	2017
Publishing country	England
Document type	Editorial
ZDB-ID	1469153-x
ISSN	1473-0804 ; 1369-7137
ISSN (online)	1473-0804
ISSN	1369-7137
DOI	10.1080/13697137.2017.1367894
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Article ; Online: Premature ovarian insufficiency.

McGlacken-Byrne, Sinéad M / Conway, Gerard S

Best practice & research. Clinical obstetrics & gynaecology

2021 Volume 81, Page(s) 98–110

Abstract: The natural lifespan of the ovary is occasionally interrupted by pathological processes; some are known, but many are unknown. Premature ovarian insufficiency (POI) can be a devastating diagnosis for an adolescent or for someone who has yet to start a ... ...

Abstract	The natural lifespan of the ovary is occasionally interrupted by pathological processes; some are known, but many are unknown. Premature ovarian insufficiency (POI) can be a devastating diagnosis for an adolescent or for someone who has yet to start a family. Common causes of POI include genetic and chromosomal defects, autoimmune damage, and cancer treatments. Knowledge of the pathogenesis of this condition and an awareness of contemporary hormone replacement and fertility options are required to design a multidisciplinary therapeutic approach comprising reproductive medicine, endocrinology, clinical psychology, and assisted fertility expertise.
MeSH term(s)	Adolescent ; Female ; Fertility ; Hormone Replacement Therapy/adverse effects ; Humans ; Primary Ovarian Insufficiency/diagnosis ; Primary Ovarian Insufficiency/etiology ; Primary Ovarian Insufficiency/therapy
Language	English
Publishing date	2021-11-16
Publishing country	Netherlands
Document type	Journal Article ; Review
ZDB-ID	2050090-7
ISSN	1532-1932 ; 1521-6934
ISSN (online)	1532-1932
ISSN	1521-6934
DOI	10.1016/j.bpobgyn.2021.09.011
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Article ; Online: Management of a Girl With Delayed Puberty and Elevated Gonadotropins.

McGlacken-Byrne, Sinéad M / Achermann, John C / Conway, Gerard S

Journal of the Endocrine Society

2022 Volume 6, Issue 9, Page(s) bvac108

Abstract: A girl presenting with delayed puberty and elevated gonadotropins may have a range of conditions such as Turner syndrome (TS), primary ovarian insufficiency (POI), and 46,XY disorders of sexual development (DSD). An organized and measured approach to ... ...

Abstract	A girl presenting with delayed puberty and elevated gonadotropins may have a range of conditions such as Turner syndrome (TS), primary ovarian insufficiency (POI), and 46,XY disorders of sexual development (DSD). An organized and measured approach to investigation can help reach a timely diagnosis. Management of young people often requires specialist multidisciplinary input to address the endocrine and nonendocrine features of these complex conditions, as well as the psychological challenges posed by their diagnosis. Next-generation sequencing within the research setting has revealed several genetic causes of POI and 46,XY DSD, which may further facilitate an individualized approach to care of these young people in the future. Pubertal induction is required in many and the timing of this may need to be balanced with other issues specific to the condition (eg, allowing time for information-sharing in 46,XY DSD, optimizing growth in TS). Shared decision-making and sign-posting to relevant support groups from the outset can help empower young people and their families to manage these conditions. We describe 3 clinical vignettes of girls presenting with delayed puberty and hypergonadotropic amenorrhea and discuss their clinical management in the context of current literature and guidelines.
Language	English
Publishing date	2022-07-08
Publishing country	United States
Document type	Journal Article
ISSN	2472-1972
ISSN (online)	2472-1972
DOI	10.1210/jendso/bvac108
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Article ; Online: A conserved NR5A1-responsive enhancer regulates SRY in testis-determination.

Houzelstein, Denis / Eozenou, Caroline / Lagos, Carlos F / Elzaiat, Maëva / Bignon-Topalovic, Joelle / Gonzalez, Inma / Laville, Vincent / Schlick, Laurène / Wankanit, Somboon / Madon, Prochi / Kirtane, Jyotsna / Athalye, Arundhati / Buonocore, Federica / Bigou, Stéphanie / Conway, Gerard S / Bohl, Delphine / Achermann, John C / Bashamboo, Anu / McElreavey, Ken

Nature communications

2024 Volume 15, Issue 1, Page(s) 2796

Abstract: The Y-linked SRY gene initiates mammalian testis-determination. However, how the expression of SRY is regulated remains elusive. Here, we demonstrate that a conserved steroidogenic factor-1 (SF-1)/NR5A1 binding enhancer is required for appropriate SRY ... ...

Abstract	The Y-linked SRY gene initiates mammalian testis-determination. However, how the expression of SRY is regulated remains elusive. Here, we demonstrate that a conserved steroidogenic factor-1 (SF-1)/NR5A1 binding enhancer is required for appropriate SRY expression to initiate testis-determination in humans. Comparative sequence analysis of SRY 5' regions in mammals identified an evolutionary conserved SF-1/NR5A1-binding motif within a 250 bp region of open chromatin located 5 kilobases upstream of the SRY transcription start site. Genomic analysis of 46,XY individuals with disrupted testis-determination, including a large multigenerational family, identified unique single-base substitutions of highly conserved residues within the SF-1/NR5A1-binding element. In silico modelling and in vitro assays demonstrate the enhancer properties of the NR5A1 motif. Deletion of this hemizygous element by genome-editing, in a novel in vitro cellular model recapitulating human Sertoli cell formation, resulted in a significant reduction in expression of SRY. Therefore, human NR5A1 acts as a regulatory switch between testis and ovary development by upregulating SRY expression, a role that may predate the eutherian radiation. We show that disruption of an enhancer can phenocopy variants in the coding regions of SRY that cause human testis dysgenesis. Since disease causing variants in enhancers are currently rare, the regulation of gene expression in testis-determination offers a paradigm to define enhancer activity in a key developmental process.
MeSH term(s)	Animals ; Female ; Humans ; Male ; Cell Line ; Gonadal Dysgenesis ; Mammals/genetics ; Regulatory Sequences, Nucleic Acid ; Sertoli Cells/metabolism ; Sex-Determining Region Y Protein/genetics ; Steroidogenic Factor 1/genetics ; Steroidogenic Factor 1/metabolism ; Testis/metabolism
Chemical Substances	NR5A1 protein, human ; Sex-Determining Region Y Protein ; Steroidogenic Factor 1 ; SRY protein, human ; HTRA2 protein, human (EC 3.4.21.108)
Language	English
Publishing date	2024-03-30
Publishing country	England
Document type	Journal Article
ZDB-ID	2553671-0
ISSN	2041-1723 ; 2041-1723
ISSN (online)	2041-1723
ISSN	2041-1723
DOI	10.1038/s41467-024-47162-2
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Article ; Online: Adult care of pediatric conditions: lessons from Turner's syndrome.

Conway, Gerard S

The Journal of clinical endocrinology and metabolism

2009 Volume 94, Issue 9, Page(s) 3185–3187

MeSH term(s)	Adult ; Female ; Humans ; Turner Syndrome/diagnosis ; Turner Syndrome/therapy
Language	English
Publishing date	2009-09
Publishing country	United States
Document type	Comment ; Editorial
ZDB-ID	3029-6
ISSN	1945-7197 ; 0021-972X
ISSN (online)	1945-7197
ISSN	0021-972X
DOI	10.1210/jc.2009-1457
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Article: Analysis of genetic variability in Turner syndrome linked to long-term clinical features.

Suntharalingham, Jenifer P / Ishida, Miho / Cameron-Pimblett, Antoinette / McGlacken-Byrne, Sinead M / Buonocore, Federica / Del Valle, Ignacio / Madhan, Gaganjit Kaur / Brooks, Tony / Conway, Gerard S / Achermann, John C

Frontiers in endocrinology

2023 Volume 14, Page(s) 1227164

Abstract: Background: Women with Turner syndrome (TS) (45,X and related karyotypes) have an increased prevalence of conditions such as diabetes mellitus, obesity, hypothyroidism, autoimmunity, hypertension, and congenital cardiovascular anomalies (CCA). Whilst ... ...

Abstract	Background: Women with Turner syndrome (TS) (45,X and related karyotypes) have an increased prevalence of conditions such as diabetes mellitus, obesity, hypothyroidism, autoimmunity, hypertension, and congenital cardiovascular anomalies (CCA). Whilst the risk of developing these co-morbidities may be partly related to haploinsufficiency of key genes on the X chromosome, other mechanisms may be involved. Improving our understanding of underlying processes is important to develop personalized approaches to management. Objective: We investigated whether: 1) global genetic variability differs in women with TS, which might contribute to co-morbidities; 2) common variants in X genes - on the background of haploinsufficiency - are associated with phenotype (a "two-hit" hypothesis); 3) the previously reported association of autosomal Methods: Whole exome sequencing was undertaken in leukocyte DNA from 134 adult women with TS and compared to 46,XX controls (n=23), 46,XX women with primary ovarian insufficiency (n=101), and 46,XY controls (n=11). 1) Variability in autosomal and X chromosome genes was analyzed for all individuals; 2) the relation between common X chromosome variants and the long-term phenotypes listed above was investigated in a subgroup of women with monosomy X; 3) Results: Standard filtering identified 6,457,085 autosomal variants and 126,335 X chromosome variants for the entire cohort, whereas a somatic variant pipeline identified 16,223 autosomal and 477 X chromosome changes. 1) Overall exome variability of autosomal genes was similar in women with TS and control/comparison groups, whereas X chromosome variants were proportionate to the complement of X chromosome material; 2) when adjusted for multiple comparisons, no X chromosome gene/variants were strongly enriched in monosomy X women with key phenotypes compared to monosomy X women without these conditions, although several variants of interest emerged; 3) an association between Conclusions: Women with TS do not have an excess of genetic variability in exome analysis. No obvious X-chromosome variants driving phenotype were found, but several possible genes/variants of interest emerged. A reported association between autosomal
MeSH term(s)	Adult ; Humans ; Female ; Turner Syndrome/genetics ; Diabetes Mellitus ; Karyotyping ; Autoimmunity ; Phenotype
Language	English
Publishing date	2023-09-20
Publishing country	Switzerland
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2592084-4
ISSN	1664-2392
ISSN	1664-2392
DOI	10.3389/fendo.2023.1227164
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Article ; Online: Outcome of ovarian stimulation for oocyte cryopreservation in women with Turner syndrome.

Talaulikar, Vikram Sinai / Conway, Gerard S / Pimblett, Antoinette / Davies, Melanie C

Fertility and sterility

2018 Volume 111, Issue 3, Page(s) 505–509

Abstract: ... cohort study.: Setting: Reproductive medicine clinic.: Patient(s): Seven women with TS who attended ... the clinic between 2011 and 2017.: Intervention(s): Ovarian stimulation and oocyte cryopreservation ... Main outcomes measure(s): Number of oocytes cryopreserved, ovarian hyperstimulation syndrome ...

Abstract	Objective: To study the safety and efficacy of ovarian stimulation and oocyte cryopreservation as a method of fertility preservation in women with Turner syndrome (TS). Design: Retrospective cohort study. Setting: Reproductive medicine clinic. Patient(s): Seven women with TS who attended the clinic between 2011 and 2017. Intervention(s): Ovarian stimulation and oocyte cryopreservation. Main outcomes measure(s): Number of oocytes cryopreserved, ovarian hyperstimulation syndrome. Result(s): The oocyte retrieval rates (mean ± SD, 9 ± 3.16) in women with TS were comparable to the published data from healthy women. The oocyte yield was higher than expected based on the low antimüllerian hormone levels. There was no correlation between baseline antimüllerian hormone or antral follicle count levels and the number of oocytes retrieved. Conclusion(s): Oocyte cryopreservation after ovarian stimulation appears to be safe and successful in women with mosaic TS who wish to consider fertility preservation.
MeSH term(s)	Adolescent ; Adult ; Cryopreservation ; Female ; Fertility Agents, Female/adverse effects ; Fertility Agents, Female/therapeutic use ; Fertility Preservation/adverse effects ; Fertility Preservation/methods ; Humans ; Infertility, Female/diagnosis ; Infertility, Female/etiology ; Infertility, Female/physiopathology ; Infertility, Female/therapy ; Oocyte Retrieval ; Oocytes ; Ovarian Hyperstimulation Syndrome/chemically induced ; Ovarian Reserve/drug effects ; Ovulation/drug effects ; Ovulation Induction/adverse effects ; Ovulation Induction/methods ; Pregnancy ; Retrospective Studies ; Treatment Outcome ; Turner Syndrome/complications ; Turner Syndrome/diagnosis ; Turner Syndrome/genetics ; Young Adult
Chemical Substances	Fertility Agents, Female
Language	English
Publishing date	2018-12-28
Publishing country	United States
Document type	Journal Article
ZDB-ID	80133-1
ISSN	1556-5653 ; 0015-0282
ISSN (online)	1556-5653
ISSN	0015-0282
DOI	10.1016/j.fertnstert.2018.11.010
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Article ; Online: Turner's syndrome: challenges of late diagnosis.

Lee, Marilyn Cheng / Conway, Gerard S

The lancet. Diabetes & endocrinology

2013 Volume 2, Issue 4, Page(s) 333–338

Abstract: Girls and women with Turner's syndrome who come to medical attention older than 12 years present a challenge of medical management. Puberty is already delayed and some compromises have to be made in adjusting the timing of artificially induced puberty to ...

Abstract	Girls and women with Turner's syndrome who come to medical attention older than 12 years present a challenge of medical management. Puberty is already delayed and some compromises have to be made in adjusting the timing of artificially induced puberty to optimise overall outcome with respect to stature, secondary sex characteristics, and psychosocial endpoints. Additionally, individuals who present with primary amenorrhoea to adult services might miss the opportunity for effective growth hormone treatment. Further, induction of puberty regimens lack an evidence base or even clear guidelines for the timing and dose of oestrogen replacement. We have searched the scientific literature to inform management of Turner's syndrome.
MeSH term(s)	Adolescent ; Adult ; Body Height/physiology ; Child ; Delayed Diagnosis ; Female ; Humans ; Puberty/physiology ; Turner Syndrome/diagnosis ; Turner Syndrome/psychology ; Young Adult
Language	English
Publishing date	2013-12-06
Publishing country	England
Document type	Journal Article ; Review
ISSN	2213-8595
ISSN (online)	2213-8595
DOI	10.1016/S2213-8587(13)70153-0
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Article ; Online: Liver dysfunction in Turner syndrome and its relationship to exogenous oestrogen.

Lee, Marilyn C / Conway, Gerard S

European journal of gastroenterology & hepatology

2013 Volume 25, Issue 10, Page(s) 1141–1145

Abstract: Liver dysfunction is commonly seen in women with Turner syndrome and can manifest in a variety of pathologies. In this review, we discuss the spectrum of liver anomalies associated with this syndrome, and discuss some possible aetiological factors and ... ...

Abstract	Liver dysfunction is commonly seen in women with Turner syndrome and can manifest in a variety of pathologies. In this review, we discuss the spectrum of liver anomalies associated with this syndrome, and discuss some possible aetiological factors and relationships with exogenous oestrogen.
MeSH term(s)	Bile Duct Diseases/etiology ; Biopsy ; Estrogen Replacement Therapy ; Ethinyl Estradiol/adverse effects ; Ethinyl Estradiol/therapeutic use ; Female ; Humans ; Liver/enzymology ; Liver/pathology ; Liver Diseases/diagnosis ; Liver Diseases/etiology ; Obesity/complications ; Turner Syndrome/complications ; Turner Syndrome/drug therapy
Chemical Substances	Ethinyl Estradiol (423D2T571U)
Language	English
Publishing date	2013-10
Publishing country	England
Document type	Journal Article ; Review
ZDB-ID	1034239-4
ISSN	1473-5687 ; 0954-691X
ISSN (online)	1473-5687
ISSN	0954-691X
DOI	10.1097/MEG.0b013e3283614b75
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