JCU - Abstracts of the BAUS 2018 Scientific Meeting - June 2018 - 39

Abstracts
this study was to assess these variables from multicenter
specialist centres in the UK.
Patients and Methods: We retrospectively reviewed
1473 records and identified 73 patients with nonobstructive azoospermia and non-mosaic KS who underwent
micro-TESE between 2004 and 2016, at 3 UK tertiary
referral centres. All men underwent testicular ultrasound,
hormonal and genetic blood testing and biopsies were
sent for pathology and Johnson score evaluation.
Results: The prevalence of KS in our population of 4.96%.
There was no significant difference in SSR between the
Andrology centres.The mean right testicular volume 2.6cc
and left testicular volume was 2.54cc.The overall SRR was
21.2% although sperm was found in 100% of testicles with
hypospermatogenesis. Patient age (p=0.42), testicular size
(p=0.32), serum FSH (p=0.72), LH (p=0.65), prolactin
(p=0.36), and testosterone (p=0.83) had no significant
impact on SSR. The age at sperm retrieval did not significantly impact on SSR. Preoperative pharmacological stimulation in 26 men did not increase the rate of SSR (p=0.52).
Conclusion: The SSR in this multicentre UK KS cohort
study is inferior to that reported in the contemporary
literature. There were no predictive or prognostic factors
for SSR in this group or geographical distribution for SSR.
P3-14 Novel measures of sperm DNA
damage increase its usefulness to diagnose
male infertility and predict live births
following both IVF and ICSI
Vicens-morton A1, Nicopoullos J2, Lewis S3, Lee K4,
Larsen P5, Ramsay J6, Minhas S7, Yap T1
1Urology Department - Guy's and St Thomas' NHS trust, London,
United Kingdom, 2The Lister Hospital Fertility Clinic, London, United
Kingdom, 3Queens University Hospital - Fertility Unit, Belfast, United
Kingdom, 4SpermComet - Fertility Unit, Belfast, United Kingdom,
5Cryos Fertility - Department of Pathology, Aarhus, Denmark, 6Imperial
College Healthcare NHS Trust - Male Fertility Unit, London, United
Kingdom, 7University College London Hospital, United Kingdom

Introduction: The Comet assay measures DNA damage
in individual sperm enabling the degree of heterogeneity
of a sample to be assessed.We explored the impact of this
heterogeneity and assessed diagnostic and predictive
power of novel Comet parameters that quantify damage
in the semen sample.
Methods: 381 men of couples attending for IVF or ICSI
were recruited. Sperm DNA damage was quantified using
the average Comet Score (ACS) and two novel parameters: low Comet Score and high Comet Score (LCS and
HCS: % sperm with a statistically designated low and high
score, respectively). Sperm from 166 men with idiopathic
infertility were compared with those from 76 sperm
donors, using ROC analysis. 79 IVF and 229 ICSI cycles
were included to determine thresholds for each parameter using ROC analysis. Thresholds were used to compare
live birth rates (LBRs) following ART.

39
Results: 80% of sperm from fertile men had less than
33% DNA damage. ACS, HCS and LCS were all highly predictive of male infertility (ROC>0.9, p<0.0001). IVF LBRs
declined sharply once sperm DNA damage exceeded all
threshold levels with HCS showing the sharpest decline.
ICSI LBRs were also impacted by sperm DNA damage
with highest LBRs in men whose sperm DNA approached
the fertile range.Trends in IVF and ICSI differed in that IVF
LBRs decreased as damage increased whereas in ICSI,
LBRs decreased but then remained stable.
Conclusions: The proportion of sperm with low or high
levels of DNA damage provides discriminatory information
for male infertility diagnosis and treatment outcomes.

ePoster Session 4:
Stones, Imaging and Upper Tract
Disorders
Tuesday 26 June
10:30 - 12:00
Room 4
Chairs: Ben Chew & Matt Bultitude
P4-1 Does the genotype in first-degree
relatives with cystinuria relate to their
phenotype?
Kum F1, Wong K1, Mein R1, Bultitude M1, Thomas K1
1Guy's and St. Thomas' Hospitals, London, United Kingdom

Introduction: There are 2 genes responsible for the different modes of inheritance of cystinuria; SLC3A1 (autosomal recessive) and SLC7A9 (autosomal dominant with
incomplete penetrance). Over 150 mutations are known,
hence analysing the genotype: phenotype correlation is
challenging. Studying first-degree relatives in isolation may
offer us a better insight.
Methods: 30 first-degree relatives, including 3 twin pairs
(1 identical) were identified from our cohort of 160
cystinuria patients. Mutations were detected with DNA
sequencing. Phenotypic data were collected prospectively.
Results: All first-degree relatives had the same mutation.
Median age was 37years (18-73). The gender distribution
was M:F 2:1, which is different from our entire clinic
cohort (M:F, 1:1). There was an equal split of SLC3A1 and
SLC7A9 genes, unlike the 2:1 ratio of SLC3A1:SLC7A9
seen in our clinic cohort and reported literature. Amongst
a variety of mutations, c.1400T>C p.(Met467Thr) and
duplication of exons 5 to 9 were the two most commonly
found mutations in SLC3A1. None of the patients had the
same phenotype as their relative for stone formation,
medication, surgical interventions, renal function, urinary
cystine or kidney loss.
Conclusion: Though it seems logical that sharing a genotype in first-degree relatives would lead to similar disease
severity, we were unable to demonstrate this, even in the

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