07-02-2025
This is an Online E Log Book to discuss our patient's de-identified health data shared after taking her signed informed consent. Here we discuss our patient's problems through series of inputs from available global online community experts with an aim to solve those patient's clinical problems with collective current best evidence based inputs.
This case is about a 55 year old female who was neglected by her parents and also siblings when she was young and never experienced menstruation in her 55 yrs of existence. When asked her relatives why she was not given treatment for the problem, they mentioned that they were financially weak and the patient lost her parents at a very young age and also her two brothers who were not healthy and were no more to take care of this lady. This patient with meagre pension of 2K from the government survives with the help of her cousins, who give her a bag of rice each. She is a hardworking woman and does all types of chores and is surviving on her own leading a lonely life. Recently she visited the hospital with complaints of chest pain and low backache.
OPD today: 55F with metabolic syn complain of low backache.
She has never experienced menstruation in her 55 years of existence.
She also has all these vitiliginous patches noticeable even in the prior images around different locations of her skin surface.
PPM 4 - Fed this xray to gemini, it's avoiding medical work. I don't have access to grok that recently started interpreting radiological images.
PPM 1 - Can you use your medical expertise to diagnose this x-ray? Also @PPM6.
PPM 1 - 👆Start counting the vertebrae from L5 which is just above the sacrum and then see the size of each vertebrae till you reach L2 and L1.
PPM 4 - Spondylolisthesis?
PPM 6 - Lumbar Spondylosis with Intervertebral Disc Degeneration.
lumbosacral region of the spine, which includes the lumbar vertebrae (L1 to L5) and potentially part of the sacrum (S1). This area supports much of the upper body's weight and is a common site for degenerative changes like disc degeneration and spondylosis.
PPM 7 - Collapsed vertebra.
PPM 1 - 👍
Ah I recall you had seen a spondylolysthesis during your first elective!
Why don't you look carefully at the size of each lumbar vertebrae?
PPM 8 - Sir was this present from the childhood?
PPM 1 -No few days, Look carefully at the size of each lumbar vertebrae.
PPM 4 - Reduced size of lumbar vertebrae.
PPM 8 - Osteoporosis?
PPM 4 - Osteoporosis, Degenerative Disc Disease, Vertebral Compression Fractures, Aging. (Differentials from cgpt. I needed to take help)
For this patiet can rule out aging, can rule in possible influence of hormones causing osteoporosis.
Degenerative Disc Disease - unable to identify any reduction in space between vertebrae. Probably rule out.
PPM 9 - 
PPM 1 - 👍
PPM 4 - 🙏
Collapsed / fractured because of osteoporosis.
PPM 9 - 👍
PPM 1 - Yes vertebral fractures present as a wedge shaped collapse.
PPM 4 - 🙏
PPM 9 - But this is osteoporosis most probably.
PPM 1 - Even the size of the second and third appears reduced.
PPM 1 - Can we correlate her no menarche, wide carrying angle with the vitiligo? Can you get any popular AI LLM to provide a diagnosis by sharing this multi modal data? @PPM3 @PPM4 @PPM5
PPM 4 - Cgpt - just used text in the messages here as they are already text translation of clinican's sensesory data collection.
Output -
Yes, there seems to be a possible syndromic correlation between her primary amenorrhea (never having menstruated), skeletal deformities (gibbus deformity, wide carrying angle), and vitiligo. One possible explanation could be a genetic or endocrine disorder affecting her development.
### *Possible Differential Diagnoses:*
1. *Turner Syndrome (45,X or Mosaicism)*
- *Primary Amenorrhea* (due to ovarian dysgenesis)
- *Wide Carrying Angle* (cubitus valgus is common in Turner syndrome)
- *Skeletal Abnormalities* (short stature, kyphoscoliosis, osteoporosis)
- *Autoimmune Association* (Turner syndrome is associated with autoimmune diseases, including vitiligo)
2. *Congenital Adrenal Hyperplasia (CAH) or Androgen Insensitivity Syndrome (AIS)*
- *Primary Amenorrhea* (AIS patients have XY karyotype but appear female)
- *Skeletal Features* (CAH can lead to bone abnormalities)
- *Vitiligo* (associated with autoimmune endocrinopathies)
3. *Polyglandular Autoimmune Syndrome (PGA Type 1 or Type 2)*
- *Vitiligo* (common autoimmune feature)
- *Hypogonadism / Amenorrhea* (due to adrenal insufficiency or ovarian failure)
- *Skeletal Issues* (possibly linked to autoimmune osteoporosis)
4. *Mucopolysaccharidosis or Lysosomal Storage Disorder*
- *Gibbus Deformity* (common in conditions like Hurler syndrome)
- *Amenorrhea* (if associated with endocrine dysfunction)
- *Skin Pigmentation Changes* (though not classical vitiligo)
### *Next Steps for Diagnosis:*
- *Karyotyping* (Turner Syndrome or XY disorders of sex development)
- *Hormonal Workup* (FSH, LH, Estradiol, AMH)
- *Autoimmune Panel* (Anti-TPO, ANA, adrenal antibodies)
- *DEXA Scan* (Osteoporosis evaluation)
- *Spinal Imaging* (To evaluate the gibbus deformity)
There is a strong likelihood of an underlying genetic or autoimmune disorder linking her symptoms. Would you like to focus on a specific condition for more details?
PPM 1 - 👆This is actually a pretty good lead @PPM5 @PPM4
PPM 4 - 🙏
Prompt - OPD today: 55F with metabolic syn complain of low backache
She also has a marked gibbus with a sharp angular deformity in the lumbosacral area
She has never experienced menstruation in her 55 years of existence!
She also has all these vitiliginous patches noticeable even in the prior images around different locations of her skin surface
Can we correlate her no menarche, wide carrying angle with the vitiligo?
14-02-2025
PPM 1 - Very interesting patient of 55F with absence of 1 x chromosome making her lead a life without children due to an ill formed Uterus.
PA - The patient is having problem with her back. They need your advice of medicine and food.
PPM 1 - Questions for the patient advocate;
Please describe your patient's sequence of events that led to the current problems. Please begin the sequence of events from the time your patient had absolutely no problems at all.
Please describe your patient's hourly routine over 24 hours when he was perfectly alright
Next please describe what happened to his hourly 24 hour routine once the disease took hold on his life
Please mention specifically which part of the patient's hourly routine was disrupted
What are the patient's current requirements from us like if we had to give him a single medicine which problem would they prefer it to address?
Please post the patient's clinical photo of abdomen and arm muscle as demonstrated below in the image here:
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