SRI Supplement to Reproductive Sciences - Volume 25 Number 1 - March 2018 - 324A

324A

Reproductive Sciences Vol. 25, Supplement 1, March 2018

Scientific Abstracts

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S-221

Abstract Withdrawn

Ovarian Function in Patients with GATA2 and DOCK8 Deficiencies
Post Stem Cell Transplant. Olivia Carpinello*,2 Jessica Zolton†,2 Josette
Dawkins†,1 Steven M Holland*,2 Dennis D Hickstein*,2 Micah Hill*,2
Alan DeCherney*.2 1Rochester Regional Health, Rochester, NY, United
States; 2The National Institutes of Health, Bethesda, MD, United States.
INTRODUCTION: GATA2 deficiency and DOCK8 deficiency are two
primary genetic immunodeficiency diseases that were described in 2011
and 2009, respectively. Both diseases are treated with high-dose, busulfan
based conditioning regimen followed by allogeneic hematopoietic stem
cell transplantation (HSCT). These two diseases were only recently
described and even more recently treated by HSCT. They are usually
diagnosed in young adults; however, there are no long-term data describing
ovarian function after transplant.
METHODS: A retrospective chart review was performed on all female
patients with either GATA2 or DOCK8 deficiencies who were treated
with HSCT at a single center using a uniform conditioning regimen.
Post-transplant values for FSH and E2 were used as markers of ovarian
function. Progress notes were used to clarify indeterminate results.
RESULTS: Of thirty-three females with GATA2 deficiency receiving
HSCT, 12 (36.3%) had fertility preservation. No post-transplant FSH or
E2 values were available for 12 of the patients. Only 3 (14.3%) of the
21 patients with post-HSCT data had return of ovarian function. Three
had lab values suggestive of hypogonadotropic hypogonadism (HH).
The 15 patients for whom persistent ovarian failure was demonstrated
were between 4 months and 4 years post-transplant (6 patients > 2 years).
Fourteen females with DOCK8 deficiency underwent transplant over
6 years. Four of the 14 (28.6%) underwent fertility preservation. Four
patients died and were without follow up data. None of the 10 patients
with follow up data had normal ovarian function. Two of the patients had
laboratory values suggestive of HH. After three years, one patient had
a growth spurt, which may indicate partial return of function. However,
the remaining 7 patients had persistent ovarian failure after a range of
1-4 years post-transplant (3 patients > 3 years).
CONCLUSION: Oocyte vitrification is considered the standard of
care for female fertility preservation and is no longer experimental. It is
important to inform female patients with DOCK8 and GATA2 deficiencies
of the high likelihood of permanent ovarian failure after high-dose
busulfan-based conditioning followed by HSCT and to help facilitate
affordable and efficient oocyte vitrification if desired. It is also important
to counsel patients that the effect these mutations have on fertilization
is not yet known.

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Prepregancy Phenotype and Physiological Characteristics in
PCOS. Tendai Chiware†,1,2 Carole McBride,1 Elizabeth McGee,1,2 Ira
Bernstein*.1,2 1Larner College of Medicine, University of Vermont,
Burlington, VT, United States; 2University of Vermont Medical Center,
Burlington, VT, United States.
INTRODUCTION: Polycystic Ovarian Syndrome (PCOS) affects 5 to
10% of women of reproductive age resulting in menstrual abnormalities,
hyperandrogenism, infertility, metabolic disturbances and cardiovascular
risk. We aimed to examine subclinical metabolic and cardiovascular
features in young women with PCOS.
METHODS: 118 young women were recruited, with 15 self-reporting
a diagnosis of PCOS. Body composition was evaluated by DEXA scan
and physical fitness by VO2 max testing. Women were assessed for
blood pressure, response to volume challenge, aortic-femoral pulse wave
velocity, flow mediated vasodilation, adrenergic response to Valsalva, as
well as uterine, renal and cardiac hemodynamics. Complete blood counts,
metabolic and lipid profiles were assessed. HOMA-IR was calculated
as an index of insulin resistance. All studies were conducted during the
follicular phase of the menstrual cycle, or following a withdrawal bleed
(mean 9.4±3.5 days).
RESULTS: There was no difference in age between groups. We identified
differences in BMI, total fat and fat distribution, all showing statistically
significant increases in PCOS. Renal and cardiac volumetrics, as well
as laboratory markers also differed in PCOS, as shown in Table 1. We
saw no differences between healthy and PCOS subjects in adrenergic
response, plasma volume, blood pressure, vessel compliance in response
to volume challenge, uterine blood flow, pulse wave velocity and lipid
profile. Angiotensin II, urine sodium and creatinine statistically differed
between the two groups. Fasting glucose, insulin and HOMA-IR trended
higher in PCOS, although not all significantly.
CONCLUSION: Although our sample size is small, our results suggest
that physiology of women with PCOS differs from that of healthy women.
These differences may help explain clinical trajectories, both pregnancy
related, as well as long term health risks associated with PCOS.
Table1
Healthy

PCOS

p value

N

103

15

N/A

Age (years)

31.2

30.1

0.4

Parous (%)

30

70

0.013

Cycle Day (days)

9.3

9.8

0.6

BMI (kg/m2)

24.8

30.4

0.003

Android Fat (g)

1919

2902

0.006

Lean Body Mass (%)

97.7

43.3

0.7

Cardiac Output (L/min)

4.6

5.2

0.03

Uterine Blood Flow (mL/min)

45.3

40.8

0.5

Uterine Index Uterine Blood Flow per Cardiac
Output (%)

1.0

0.8

0.01

Small Vessel Renal System Pulsatility Index

0.97

0.90

0.05

Small Vessel Renal System Resistance Index

0.61

0.58

0.04

Hemoglobin (g/dL)

12.5

13.1

0.007

Hematocrit (%)

36.4

37.7

0.009

Uric Acid (mg/dL)

4.3

5.1

0.01

Creatinine Clearance (mL/min)

125.3

146.1

0.017

Fasting Blood Glucose (mmol/mL)

0.24

0.29

0.03

Insulin (mIU/mL)

5.8

7.9

0.06

HOMA-IR

1.22

1.64

0.1
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