My wife is 34 years old and we are planning our second pregnancy. We already have one child, who was conceived naturally about 3 years ago.

Her current fertility-related situation:

• Age: 34
• Menstrual cycles: Regular
• Periods: No significant pain
• Previous pregnancy: Natural conception, approximately 3 years ago
• Ultrasound: Bilateral ovarian endometriomas, approximately 2.5 cm each
• AMH: 8.37 ng/mL
• TSH: 1.575 mIU/mL
• Prolactin: 4.67 ng/mL
• FSH : 4.81mlu/ml 2rd of mensuration
• LH : 4.94 mlu/ml 2rd of mensuration
• edtradiol ii : 70.78 PG/ML 2rd of mensuration
• No known ovulation problems
• DMD MLPA: Negative/normal; further genetic sequencing is pending because our first child has DMD.

Her laboratory report shows AMH 8.371 ng/mL, with the laboratory's reference indicating >6.8 ng/mL as a high level. TSH and prolactin are within the stated laboratory reference ranges.

We are trying to decide between:

1. Trying natural OR
2. IVF with PGT-M if she is found to be a DMD carrier.

Our main concerns are the bilateral endometriomas and whether there could be pelvic adhesions affecting fertility. She has no significant endometriosis-related pain and previously conceived naturally.

We are also wondering whether an AMH of 8.37 could indicate PCOS, even though her cycles are regular.

For anyone with a similar situation:

• Did you conceive naturally with small bilateral endometriomas?
• Did endometriosis/adhesions affect your fertility despite regular cycles and no pain?

Thanks in advance.

My wife is 34 years old and we are planning our second pregnancy. We already have one child, who was conceived naturally about 3 years ago.

Her current fertility-related situation:

• Age: 34
• Menstrual cycles: Regular
• Periods: No significant pain
• Previous pregnancy: Natural conception, approximately 3 years ago
• Ultrasound: Bilateral ovarian endometriomas, approximately 2.5 cm each
• AMH: 8.37 ng/mL
• TSH: 1.575 mIU/mL
• Prolactin: 4.67 ng/mL
• FSH : 4.81mlu/ml 2rd of mensuration
• LH : 4.94 mlu/ml 2rd of mensuration
• edtradiol ii : 70.78 PG/ML 2rd of mensuration
• No known ovulation problems
• DMD MLPA: Negative/normal; further genetic sequencing is pending because our first child has DMD.

Her laboratory report shows AMH 8.371 ng/mL, with the laboratory's reference indicating >6.8 ng/mL as a high level. TSH and prolactin are within the stated laboratory reference ranges.

We are trying to decide between:

1. Trying natural OR
2. IVF with PGT-M if she is found to be a DMD carrier.

Our main concerns are the bilateral endometriomas and whether there could be pelvic adhesions affecting fertility. She has no significant endometriosis-related pain and previously conceived naturally.

We are also wondering whether an AMH of 8.37 could indicate PCOS, even though her cycles are regular.

For anyone with a similar situation:

• Did you conceive naturally with small bilateral endometriomas?
• Did endometriosis/adhesions affect your fertility despite regular cycles and no pain?

Thanks in advance.

Hi everyone,

My 3-year-old son was recently diagnosed with Duchenne muscular dystrophy (DMD) after genetic testing.

His genetic report showed:

• Gene: DMD
• Variant: c.4545_4549delGAAGT
• Protein: p.Lys1516Ter (K1516*)
• Exon: 33
• Variant type: 5-base-pair deletion / frameshift
• Zygosity: Hemizygous
• Classification: Pathogenic

Interestingly, his DMD MLPA was negative, and the mutation was identified by sequencing. We understand this is because it is a small sequence-level deletion within exon 33 rather than a whole-exon deletion/duplication.

He is currently around 3 years old. His CK was around 16,000 U/L.

We are trying to understand more about this specific mutation, rather than just general DMD information.

Questions for other families:

1. Does anyone here have a child or family member with DMD c.4545_4549delGAAGT / p.Lys1516Ter?
2. If so, what was the motor development like during the first 5–10 years?
3. When did you first notice running/jumping/stair-climbing difficulties?
4. When did treatment with steroids begin?
5. Has anyone with this particular mutation had a muscle biopsy or dystrophin testing?
6. Has anyone with this mutation participated in a gene therapy or clinical trial?