Reviewer’s report
Title: 
Full-term live birth in a woman with 17
α
-hydroxylase and 17,20-lyase
deficiency with assisted reproductive technology: a case report
Version: 
0 
Date: 
01 Dec 2022
Reviewer: 
shafat ali
Reviewer's report:
Comments 
The study is interesting however, there are many concerns.
English language needs extensive revision, examples 
Line 12-13……gene mutation is a rare type of congenital adrenocortical
hyperplasia that mainly manifested by hypertension, hypokalemia and sexual
dysplasia.
Line 17-18… 17
α
-hydroxylase deficiency who achieved pregnancy after
treatment of in vitro fertilization (IVF) and frozen-thawed embryo transfer.
Line 23-24… She underwent whole embryo vitrification freezing and frozen-
thawed embryo transplantation was done following artificial cycle
Line 36-37.. Congenital adrenal hyperplasia (CAH) is an autosomal recessive
disorders resulting..
Line 38-39 .. Up to 90% of cases are related to impaired steroidogenesis cased
by 21α-hydroxylase deficiency [1] . What authors here mean by cased by…?
Line 44-45. CYP17A1 regulates the steroid in the gonads and cortisol in the
adrenal glands as 17
α
-hydroxylase and 17,20-lyase. The clarity of the statements
needs to be improved by mentioning that CYP17A1 performs the activities of
the said enzymes.
Line 72-74. It was inferred that she may be suffered from congenital adrenal
hyperplasia then she was referred to the endocrinology department for further
diagnosis and treatment.
Line 146-147. Recent studies have revealed their function on the structure or
function of mRNA.
Line 149-152. Qiao et al [4] showed that c.1263G>A mutation of CYP17A1
leads to aberrant splicing 
of mRNA and missing portion of exon 8 thus induces a
deletion 6 or 7 
amino acids starting from residue position 415.
Line 152-154. And that may be the reason of compound heterozygous CYP17A1
mutation leads to 17α-hydroxylase and 17,20-lyase deficiency in this patient.
Line 156-157. ….while only 
1 patient with isolated 17,20-lyase deficiency has
been reported delivery
Line 171-174… There was needless for GnRh antagonist or GnRh agonist during
gonadotropin stimulation period for the high level of serum progesterone
throughout the cycle inhibited ovulation.
Line 50-53.We report a full term live singleton birth from a woman with partial
17
α
-hydroxylase deficiency who presented with secondary amenorrhea and
infertility caused by a compound heterozygous CYP17A1 mutations. In title
"Full term live birth in woman with 17
α
-hydroxylase and 
17,20-lyase deficiency
with assisted reproductive 
technology a case report", the patient was reported
to have deficiency of 17
α
-hydroxylase and 
17,20-lyase. But here and in abstract
authors mention that the patient had partial deficiency of 17
α
-hydroxylase
activity. Authors may write them like 17
α
-hydroxylase/17,20-lyase as mentioned
in other studies.
While case presentation in abstract authors have not mentioned that the patient
was given Standardized treatment with dexamethasone
Line 54-55. The study was approved by our institution's ethics committee and the
patient provided written informed consent. Declarations: The study was
approved by ethics committee of Peking University First 195 Hospital. The
ethical clearance number and date need to be included in declarations. The
authors are also encouraged to include a blank patient informed consent as
supplementary file.
Line -57-60. Thereafter menses were irregular (intervals of 3 to 6 months
between periods), lasting 3 days. Her menstrual cycle was extended to eight to
twelve months when she was 25 years old. She married at the age of 26. Does
she had any medication during this period? If she had any treatment, does
authors evaluated the effects of that medication on her reproductive health?
Line 62-64. When she had suffered from primary infertility for 5 years, she came
to Reproductive Medicine Center of Peking University First Hospital to seek
help. It is better to write that she came for treatment rather than help.
Line 64-65. She has external female genitalia and normal breast development.
Do authors mean that she had normal external female genitalia?
Line 69-70. The sex hormone test showed that the serum progesterone level was
6.97-9.08ng/ml in early follicular phase. It is doubtful. What was the exact
progesterone level? There must be some specific value rather than a range. 
CT scan showed thickening of the medial limb of the left adrenal gland. CT
imaging is not provided in the manuscript. Add it.
Use uniform format for GnRH 
all through the manuscript.
Add other short forms with expanded form e.g. TID etc in list of abbreviations.
Line 161-166. Based on the CYP17A1 gene analyses, we come to conclusion
that this patient is suffering with mainly 17,20-lyase deficiency. The 17
α
-
hydroxylase's activity in this patient was nearly normal, thus she didn't suffer
from hypokalemia or 
hypertension. 
In case presentation authors 
mentioned that
she 
was diagnosed with NCCAH-17
α
 hydroxylase deficiency, however no
mention of 17,20-lyase deficiency has been made. 
Line 166. Check what it means, 
…duiinduction…
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Is the study design appropriate to answer the research question (including the use
of appropriate controls), and are the conclusions supported by the evidence
presented?
Yes
Are the methods sufficiently described to allow the study to be repeated?
No
Is the use of statistics and treatment of uncertainties appropriate?
No
Is the presentation of the work clear?
No
Are the images in this manuscript (including electrophoretic gels and blots) free
from apparent manipulation?
No
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