Previous issue | Volume 97 | ESPE2023

61st Annual ESPE (ESPE 2023)

The Hague, Netherlands
21 Sep 2023 - 23 Sep 2023

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The 61st ESPE Annual Meeting will now be taking place in The Hague, The Netherlands

Free Communications

Sex differentiation, gonads and gynaecology or sex endocrinology

hrp0097fc7.1 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2023

Polygenic scores for testosterone and SHBG are associated with hormone levels in male infants

Siegfried Busch Alexander , Lindhardt Ljubicic Marie , N. Upners Emmie , B. Fischer Margit , P Hagen Casper , Juul Anders

Background: The male Hypothalamic-Pituitary-Gonadal (HPG) axis undergoes a transient activity phase during the first months of life with surging serum concentrations of reproductive hormones. Theoretically, the hormonal surge could represent a passive postnatal feedback to the withdrawal from the high sex steroid levels in pregnancy. However, we believe that minipuberty rather represents an active, tightly genetically-regulated biological process. We therefore...

hrp0097fc7.2 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2023

Mapping the transcriptomic landscape of early human fetal ovary development through a clinically-focused lens

M McGlacken-Byrne Sinead , Del Torres Ignacio , P Suntharalingham Jenifer , Buonocore Federica , HDBR ICH , Crespo Berta , Moreno Nadjeda , C Simcock Ian , Arthurs Owen , Xenakis Theodoros , Niola Paola , Brooks Tony , T Dattani Mehul , C Achermann John

Introduction: Ovary development was once considered a largely passive process. RNA sequencing (RNAseq) approaches have allowed us to begin to characterise ovary development in previously unparalleled detail, revealing the process to be complex and, still, little understood. A challenge is synthesising and using these data to advance our understanding of clinical disease. Through a clinically-focused lens, we elucidate novel aspects of the transcriptional lands...

hrp0097fc7.3 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2023

ROS scavengers may improve genital skin healing in boys with hypospadias

K Lucas-Herald Angela , Hussain Samra , McGinley Kirsty , O'Toole Stuart , Flett Martyn , Steven Mairi , Lee Boma , Basith Amjad S , Faisal Ahmed S

Introduction: Hypospadias is often associated with reduced testosterone synthesis or action. High rates of complications are reported with surgical repair of hypospadias, including wound dehiscence. Boys with hypospadias have previously been demonstrated to have increased reactive oxygen species (ROS) compared to healthy controls and there is a known link between male hypogonadism and oxidative stress. It is not clear what effect ROS has on wound healing in bo...

hrp0097fc7.4 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2023

The effect of common genetic variants in CYP19A1 on serum Estradiol to Testosterone Ratio in healthy Danish children and adolescents

L. R. Groendahl Veronica , A. Holmboe Stine , S. Busch Alexander , Aksglaede Lise , P. Hagen Casper , H. Johannsen Trine , H. Petersen Jørgen , Almstrup Kristian , Frederiksen Hanne , Juul Anders

Background and Aim: Despite the broad individual variation of pubertal maturation, references traditionally describe growth in relation to just chronological age and not biological age. Hence, growth references for the adolescent period have been of limited usefulness for monitoring individual growth in clinic and for research. Especially for children and adolescents with chronic diseases is there a need to better evaluate if changes in SD-scores just before a...

hrp0097fc7.5 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2023

SGPL1 deficiency, a cause of 46XY DSD and adrenal insufficiency, impairs lipid metabolism and steroidogenesis in Leydig cells

Kwong RMW , Smith CJ , Williams J , Hall C , Metherell LA , Prasad R

Loss of function mutations in SGPL1 (sphingosine-1-phosphate lyase) give rise to a multisystemic syndrome with predominating features of primary adrenal insufficiency (PAI) and steroid resistant nephrotic syndrome. Retrospective analysis of our patient cohort and the wider literature also demonstrated primary gonadal insufficiency in a third of male patients with microphallus and bilateral cryptorchidism (all with concomitant adrenal disease and high mortality in infa...

hrp0097fc7.6 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2023

GnRHa response patterns of testis expressed genes in cryptorchid boys

Hadziselimovic Faruk , Verkauskas Gilvydas , Stadtler Michael

Introduction: Most testis expressed (TEX) genes are testis-specific and evolutionarily conserved and several studies have reported important roles of TEX11, TEX12, TEX14, TEX15 and TEX 101 in mammalian fertility. Retrotransposons are thought to be critical for the evolution of mammalian genomes. TEX19 functions in the post-translational regulation of L1 retrotransposons, which are involved in maintaining trans-generational genome stability. In boys with crypto...