Explanipedia

The transcriptomic landscape of monosomy X (45,X) during early human fetal and placental development Open

Jenifer P. Suntharalingham, Ignacio del Valle, Federica Buonocore, Sinead McGlacken‐Byrne, Tony Brooks , et al. · 2025

Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype Open

Thomas B. Smith, Robert Kopajtich, Leigh Demain, Alessandro Rea, Huw B. Thomas , et al. · 2024

Short- and long-term outcomes of adrenalectomy for primary aldosteronism in a single UK center: rear-mirror view Open

Tarek Abdel‐Aziz, Alaa Abdelsalam, Teng‐Teng Chung, Umasuthan Srirangalingam, Steven J. Hurel , et al. · 2024

Purpose Primary aldosteronism (PA), which is the commonest cause of secondary hypertension, can be cured by unilateral adrenalectomy. We report the short-and long-term outcomes after adrenalectomy performed at a single UK center over a per…

Biallelic variants in<i>DAP3</i>result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotype Open

Thomas B. Smith, Robert Kopajtich, Leigh Demain, Alessandro Rea, Huw B. Thomas , et al. · 2024

The mitoribosome synthesizes 13 protein subunits of the oxidative phosphorylation system encoded by the mitochondrial genome. The mitoribosome is composed of 12S rRNA, 16S rRNA and 82 mitoribosomal proteins encoded by nuclear genes. To dat…

Short- and long-term outcomes of adrenalectomy for Primary Aldosteronism in a single UK centre: Rear Mirror View. Open

Tarek Abdel‐Aziz, Alaa Abdelsalam, Teng-Teng Chung, Umasuthan Srirangalin, Steven J. Hurel , et al. · 2024

Purpose: Primary Aldosteronism (PA) is the commonest cause of secondary hypertension and can be cured by unilateral adrenalectomy. We report the short and long-term outcomes after adrenalectomy performed at a single UK centre over a period…

Characterization of Turner Syndrome-associated Diabetes Mellitus Open

Antoinette Cameron‐Pimblett, Clementina La Rosa, Melanie Davies, Jenifer P. Suntharalingham, Miho Ishida , et al. · 2024

Context Diabetes mellitus (DM) risk factors in Turner syndrome (TS) may include autoimmunity, obesity, β-cell dysfunction, genetic predisposition, and insulin resistance (IR). Objective This work aimed to evaluate glucose tolerance and DM …

Society for endocrinology guideline for understanding, diagnosing and treating female hypogonadism Open

Channa N. Jayasena, Kerri Devine, Katie E. Barber, Alexander Comninos, Gerard S. Conway , et al. · 2024

Female hypogonadism (FH) is a relatively common endocrine disorder in women of premenopausal age, but there are significant uncertainties and wide variation in its management. Most current guidelines are monospecialty and only address prem…

Spermatogenesis induction audit over a 5-year period at a UK male fertility centre Open

Anastasia Dimakopoulou, Alicia Walker, Prisha Pahariya, Funmi Adenubi, Elizabeth Williamson , et al. · 2024

Background: This audit aimed to evaluate and measure the outcomes of spermatogenesis induction over a 5-year period. Men with primary, as well as central hypogonadism, received gonadotrophin therapy to stimulate sperm production and fertil…

Fertility and pregnancy outcomes in women with Turner syndrome: A single centre experience Open

Elizabeth Burt, Melanie Davies, Ephia Yasmin, Antoinette Cameron‐Pimblett, Vikram Talaulikar , et al. · 2024

Objective Many women with Turner syndrome (TS) will consider fertility options and pregnancy. We wished to examine the fertility and pregnancy outcomes in women with TS undergoing oocyte donation (OD) treatment or spontaneous pregnancy in …

A conserved NR5A1-responsive enhancer regulates SRY in testis-determination Open

Denis Houzelstein, Caroline Eozénou, Carlos F. Lagos, Maëva Elzaïat, Joëlle Bignon-Topalovic , et al. · 2024

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 app…

The transcriptomic landscape of monosomy X (45,X) during early human fetal and placental development Open

Jenifer P. Suntharalingham, Ignacio del Valle, Federica Buonocore, Sinead McGlacken‐Byrne, Tony Brooks , et al. · 2024

Monosomy X (45,X) is associated with Turner syndrome and pregnancy loss in humans, but the underlying mechanisms remain unclear. We therefore analyzed the transcriptomic landscape of clinically relevant human fetal 45,X tissues (including …

Single-nucleus RNA-sequencing reveals novel potential mechanisms of ovarian insufficiency in 45,X Turner Syndrome Open

Sinead McGlacken‐Byrne, Ignacio del Valle, Theodoros Xenakis, Jenifer P. Suntharalingham, Lydia Nel , et al. · 2023

Study question Can single-nuclei and bulk RNA sequencing technologies be used to elucidate novel mechanisms of ovarian insufficiency in Turner Syndrome (TS)? Summary answer Using single-nucleus and bulk RNA sequencing approaches, we identi…

Mapping the anatomical and transcriptional landscape of early human fetal ovary development Open

Sinead McGlacken‐Byrne, Ignacio del Valle, Theodoros Xenakis, Ian C. Simcock, Jenifer P. Suntharalingham , et al. · 2023

The complex genetic mechanisms underlying human ovary development can give rise to clinical phenotypes if disrupted, such as Primary Ovarian Insufficiency and Differences of Sex Development. Through a clinically-focused lens, we combine si…

Analysis of genetic variability in Turner syndrome linked to long-term clinical features Open

Jenifer P. Suntharalingham, Miho Ishida, Antoinette Cameron‐Pimblett, Sinead McGlacken‐Byrne, Federica Buonocore , et al. · 2023

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 (CC…

P-044 Outcomes of spermatogenesis induction in hypogonadal men over a 5-year period at a UK Male Fertility Centre Open

A. Dimakopoulou, Prisha Pahariya, Alex J Walker, Funmi Adenubi, Elizabeth Williamson , et al. · 2023

Study question Assess the effectiveness of treatments at a Male Endocrine Fertility Clinic, over a five-year period, through spermatogenesis rates and fertility outcomes via a patient-centred questionnaire Summary answer Rate of successful…

Differences in Sex Development (DSD) and related conditions: mechanisms, prevalences and changing practice Open

Gerard S. Conway · 2022

Pathogenic variants in the human m6A reader YTHDC2 are associated with primary ovarian insufficiency Open

Sinead McGlacken‐Byrne, Ignacio del Valle, Polona Le Quesne Stabej, Laura Bellutti, Luz García‐Alonso , et al. · 2022

Primary ovarian insufficiency (POI) affects 1% of women and carries significant medical and psychosocial sequelae. Approximately 10% of POI has a defined genetic cause, with most implicated genes relating to biological processes involved i…

<i>ZSWIM7</i>Is Associated With Human Female Meiosis and Familial Primary Ovarian Insufficiency Open

Sinead McGlacken‐Byrne, Polona Le Quesne Stabej, Ignacio del Valle, Louise Ocaka, Andrey Gagunashvili , et al. · 2021

Background Primary ovarian insufficiency (POI) affects 1% of women and is associated with significant medical consequences. A genetic cause for POI can be found in up to 30% of women, elucidating key roles for these genes in human ovary de…

MP31-07 THE EFFECT OF HORMONAL STIMULATION IN HYPOGONADAL MEN UNDERGOING MICROSURGICAL TESTICULAR SPERM RETRIEVAL (MTESE) Open

Giovanni Chiriacò, Katy Naylor, Vikram Talaulikar, Elizabeth Williamson, Gerard S. Conway , et al. · 2021

You have accessJournal of UrologyInfertility: Therapy (MP31)1 Sep 2021MP31-07 THE EFFECT OF HORMONAL STIMULATION IN HYPOGONADAL MEN UNDERGOING MICROSURGICAL TESTICULAR SPERM RETRIEVAL (MTESE) Giovanni Chiriaco, Katy Naylor, Vikram Talaulik…

Pathogenic variants in the human m 6 A reader YTHDC2 are associated with primary ovarian insufficiency Open

Sinead McGlacken‐Byrne, Ignacio del Valle, Polona Le Quesne Stabej, Laura Belutti, Louise Ocaka , et al. · 2021

Primary ovarian insufficiency (POI) affects 1% of women and carries significant medical and psychosocial sequelae. Approximately 10% of POI has a defined genetic cause, with most implicated genes relating to biological processes involved i…

Next-Generation Sequencing Reveals Novel Genetic Variants (SRY, DMRT1, NR5A1, DHH, DHX37) in Adults With 46,XY DSD Open

Federica Buonocore, Oliver Clifford-Mobley, King T, Niccolò Striglioni, Elim Man , et al. · 2019

Context The genetic basis of human sex development is slowly being elucidated, and >40 different genetic causes of differences (or disorders) of sex development (DSDs) have now been reported. However, reaching a specific diagnosis using tr…

Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome Open

Ken McElreavey, Anne Jørgensen, Caroline Eozénou, Tiphanie Merel, Joëlle Bignon-Topalovic , et al. · 2019

Establishing reproductive potential and advances in fertility preservation techniques for XY individuals with differences in sex development Open

Rumana Islam, Sheila Lane, Suzannah A. Williams, Christian M. Becker, Gerard S. Conway , et al. · 2019

Background Discordance between gonadal type and gender identity has often led to an assumption of infertility in patients with differences in sex development (DSD). However, there is now greater recognition of fertility being an important …

Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society* Clinical Practice Guideline Open

Phyllis Speiser, Wiebke Arlt, Richard J. Auchus, Laurence S. Baskin, Gerard S. Conway , et al. · 2018

To update the congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency clinical practice guideline published by the Endocrine Society in 2010. The writing committee presents updated best practice guidelines for the clinical …

Modeling Congenital Adrenal Hyperplasia and Testing Interventions for Adrenal Insufficiency Using Donor-Specific Reprogrammed Cells Open

Gerard Ruiz‐Babot, Mariya Balyura, Irene Hadjidemetriou, Sharon Ajodha, David R. Taylor , et al. · 2018

Modeling Congenital Adrenal Hyperplasia and Testing Interventions for Adrenal Insufficiency Using Donor-Specific Reprogrammed Cells Open

Gerard Ruiz‐Babot, Mariya Balyura, Irene Hadjidemetriou, Sharon Ajodha, David R. Taylor , et al. · 2018

Hormone replacement treatment choices in complete androgen insensitivity syndrome: an audit of an adult clinic Open

Jennifer K.Y. Ko, King T, Louise Williams, Sarah Creighton, Gerard S. Conway · 2017

Objective To review the treatment choices of women with complete androgen insensitivity syndrome (CAIS) at a single tertiary centre. Design Retrospective review. Patients Women with CAIS identified from our database. Results The study grou…

The Turner syndrome life course project: Karyotype‐phenotype analyses across the lifespan Open

Antoinette Cameron‐Pimblett, Clementina La Rosa, King T, Melanie Davies, Gerard S. Conway · 2017

Summary Introduction Turner syndrome (TS) is associated with a variety of morbidities affecting nearly every body system, some of which increase in prevalence in adult life. The severity of clinical features in TS is roughly in parallel wi…

Erratum: Global disorders of sex development update since 2006: perceptions, approach and care (Hormone Research in Paediatrics (2016) 85 (158-180) DOI: 10.1159/000442975) Open

Peter A. Lee, Anna Nordenström, Christopher P. Houk, S. Faisal Ahmed, Richard J. Auchus , et al. · 2016

In the appendix of the recent publication by Lee et al. entitled 'Global disorders of sex development update since 2006: perceptions, approach and care' [Horm Res Paediatr 2016;85:158–180, DOI: 10.1159/000442975], Massimo Di Grazia, Psycho…

Синдром поликистозных яичников. Официальное заявление Европейского общества эндокринологии Open

Gerard S. Conway, Didier Dewailly, Evanthia Diamanti‐Kandarakis · 2015

Polycystic ovary syndrome (PCOS) is the most common ovarian disorder associated with androgen excess in women, which justifies the growing interest of endocrinologists. Great efforts have been made in the last 2 decades to define the syndr…

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