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 PROBLEMS WITH COLLECTIVE CURRENT BEST EVIDENCE BASED INPUTS.
[04-06-2025 11.34] PPM 1: OPD now: 41F with webbed neck and deafness since birth came with recent shortness of breath and bipedal edema.
Phenotype was unique as you can see in the images and hope @PPM3 will be able to use his Web 3.0 magic with @PPM4 and another ENT surgeon as well as Epidemiology Prof from NZ just joined @PPM5 it's been a long time we connected!
[04-06-2025 11:43] PPM 3: Based on the images and clinical summary you've provided — a 41-year-old female presenting with *webbed neck, congenital deafness, shortness of breath, and bipedal edema* — the phenotype and history suggest a syndromic diagnosis. Here is a structured clinical interpretation and potential workup:
---
### 🧬 *Syndromic Differential Diagnosis*
*Most likely diagnosis: Turner Syndrome (Mosaic or variant form)*
Although Turner syndrome typically presents earlier in life and with primary amenorrhea or infertility, milder or mosaic forms (e.g., 45,X/46,XX) may remain undiagnosed until adulthood and can present with:
* *Webbed neck*
* *Low posterior hairline*
* *Lymphedema*
* *Short stature*
* *Cardiovascular abnormalities (e.g., coarctation of aorta, bicuspid aortic valve)*
* *Hearing loss*
* *Renal anomalies*
---
### 📸 *Findings from Images*
* *Image 1 (Back view):* Prominent webbed neck and low posterior hairline.
* *Image 2 (Side view):* Possible short stature and stocky habitus.
* *Image 3 (Front view):* Broad chest appearance with widely spaced nipples and mild truncal obesity — classic Turner features.
---
### 🔍 *Clinical Concerns & Evaluation Plan*
| Symptom/Sign | Concern | Suggested Evaluation |
| ------------------- | ----------------------------------------- | ---------------------------------------- |
| Webbed neck | Congenital lymphatic dysplasia | Suggests Turner or Noonan Syndrome |
| Congenital deafness | May be sensorineural (inner ear anomaly) | *Audiometry* and *Temporal bone CT* |
| Shortness of breath | Cardiopulmonary — CHF or pericardial eff. | *ECHO*, ECG, BNP |
| Bipedal edema | Cardiac, renal, or hepatic cause | *Renal panel, LFTs, Chest X-ray, ECHO* |
---
### 🧪 *Suggested Investigations*
1. *Karyotyping (45,X or Mosaicism)*
2. *2D Echocardiography* – rule out aortic coarctation or valve pathology
3. *Renal Ultrasound* – assess for horseshoe kidney or duplication anomalies
4. *Serum FSH, LH, Estradiol* – evaluate for ovarian insufficiency
5. *Audiometry and ENT consultation*
6. *Thyroid Profile* – autoimmune thyroiditis is common in Turner syndrome
7. *HbA1c, Lipid profile* – metabolic risk screen
---
### 🔬 Possible Alternate Syndromes:
| Syndrome | Features Overlap | Differentiators |
| ------------------------------------ | ----------------------------------- | ------------------------------------------------ |
| *Noonan Syndrome* | Webbed neck, cardiac, short stature | More common in males, typical facial features |
| *Lymphedema-Distichiasis Syndrome* | Neck changes, edema | Inherited, rare, often includes double eyelashes |
| *Klippel-Feil Syndrome* | Neck webbing, low hairline | Cervical vertebral fusion — check C-spine X-ray |
---
### 🩺 Next Steps
1. *ENT Input* for lifelong deafness — imaging and hearing aids.
2. *Cardiology review* — heart disease is a major morbidity factor in Turner syndrome.
3. *Genetics* — consider genetic counseling and family screening.
4. *Endocrinology* — hormone therapy if ovarian insufficiency present.
---
Would you like me to *search for case reports or studies* on adult presentations of *Turner or Noonan syndrome with cardiac + hearing features* for management patterns?
---
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[04-06-2025 11:43] PPM 3: Scholar ChatGPT 👆
[04-06-2025 11:45] PPM 3: Here is a curated selection of *peer-reviewed research and reviews* that explore the *adult presentation of Turner Syndrome (TS)* with features like *webbed neck, deafness (sensorineural or conductive), and cardiovascular complications*:
---
### 🔬 *Key References and Links*
1. *Migliorelli et al. (2025)*
Hearing Loss and Turner Syndrome: A Scoping Review
Describes the audiologic profile of Turner Syndrome patients across ages, highlighting sensorineural hearing loss in adulthood.
[PDF Full Text](https://www.advancedotology.org/Content/files/sayilar/132/JIAO_20241723_nlm_new_indd.pdf)
2. *Huang et al. (2021)*
Recent Developments in Turner Syndrome Research
Provides a comprehensive overview of genetic underpinnings, cardiovascular risks, and hearing issues across the lifespan.
[HTML Full Text](https://www.mdpi.com/2308-3425/8/11/138)
3. *Lin et al. (2008)*
Adults with Genetic Syndromes and Cardiovascular Abnormalities
Reviews cardiovascular manifestations in TS and their lifelong implications, including valvular disease and aortic dilation.
[ScienceDirect Link](https://www.sciencedirect.com/science/article/pii/S1098360021021894)
4. *Morgan (2007)*
Turner Syndrome: Diagnosis and Management
Discusses adult diagnosis of TS with emphasis on cardiovascular risk, short stature, webbed neck, and hearing problems.
[PDF - American Family Physician](https://www.aafp.org/pubs/afp/issues/2007/0801/p405.pdf)
5. *Bondy (2010)*
Turner Syndrome in Endocrinology and Infertility
Covers reproductive endocrinology, cardiovascular anomalies, and late diagnosis scenarios including auditory deficits.
6. *Lin & Crenshaw (2021)*
Management of Genetic Syndromes: Turner Syndrome
Detailed analysis of hearing loss, neck webbing, and cardiovascular burden in adult Turner syndrome patients.
[Wiley Online Abstract](https://onlinelibrary.wiley.com/doi/abs/10.1002/9781119432692.ch60)
7. *Roberts & Fechner (2020)*
Turner Syndrome: Pathophysiology, Diagnosis, and Management
Provides updated guidance for recognizing adult TS phenotypes with otologic and cardiac manifestations.
[Springer Link](https://link.springer.com/chapter/10.1007/978-3-030-34150-3_1)
8. *Lin et al. (2023)*
Incidence and Risk Factors of Hearing Loss in TS
A focused epidemiologic study on SNHL and its correlation with metabolic and cardiovascular risk in Turner patients.
[Full Article - Frontiers](https://www.frontiersin.org/articles/10.3389/fpubh.2023.1076812/full)
9. *Khan et al. (2024)*
Turner Syndrome – Where Are We?
Offers practical perspectives for rare presentations, including hearing loss and webbed neck, in undiagnosed adults.
10. *Castelo-Branco (2014)*
Management of Turner Syndrome in Adult Life
Touches on cardiovascular complications as the leading cause of morbidity/mortality and outlines care in late-diagnosed cases.
[ScienceDirect Full Text](https://www.sciencedirect.com/science/article/pii/S0378512214002722)
---
### 🧭 Summary Insight
Adult-onset diagnosis or re-evaluation of *Turner Syndrome*—especially in mosaic forms—often hinges on recognizing a combination of:
* Congenital or progressive *hearing loss*
* *Webbed neck*, lymphedema, or short stature
* *Cardiovascular anomalies* (bicuspid aortic valve, coarctation, HTN)
* *Reproductive or endocrine disorders*
Multidisciplinary surveillance is crucial as *cardiac and auditory complications* may progress silently into adulthood.
Would you like a structured infographic or mindmap of these features for teaching or clinical presentation?
---
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[04-06-2025 11:48] PPM 3: Turner Syndrome (TS) is frequently associated with a range of *otolaryngological (ENT) problems, both **congenital and progressive*, affecting the external, middle, and inner ear. These issues are often underdiagnosed and significantly impact quality of life, especially when the diagnosis is made late, as might be the case with the adult patient you presented.
---
### 🧠 *ENT Manifestations in Turner Syndrome*
| *ENT Domain* | *Common Problems* | *Notes* |
| ------------------ | --------------------------------------------------------------------------------------------- | ------------------------------------------------------------ |
| *Middle Ear* | - Recurrent otitis media<br>- Chronic otitis media with effusion<br>- Conductive hearing loss | Due to Eustachian tube dysfunction or craniofacial anomalies |
| *Inner Ear* | - Sensorineural hearing loss (SNHL)<br>- Often progressive, bilateral | Starts in teens or early adulthood |
| *External Ear* | - Low-set ears<br>- Abnormal auricular shape | Mild but distinctive phenotypic clue |
| *Nasal & Sinus* | - Recurrent sinusitis<br>- Narrow nasal passages | Often secondary to craniofacial anatomy |
| *Oropharyngeal* | - High-arched palate<br>- Dental malocclusion<br>- Cleft palate (rare) | Can contribute to speech/language delays |
| *Voice & Speech* | - Hypernasal voice<br>- Delayed language development (due to hearing loss) | Requires audiologic & speech therapy evaluation |
---
### 🔬 *Pathophysiology Behind ENT Problems in TS*
1. *Craniofacial anomalies* such as a shortened Eustachian tube or abnormal skull base angle predispose to otitis media.
2. *Lymphatic abnormalities* in utero contribute to the characteristic *webbed neck* and may affect otic capsule development.
3. *Sensorineural hearing loss (SNHL)* is likely due to:
* X-linked gene abnormalities (e.g., SHOX, KDM6A)
* Degeneration of cochlear hair cells or stria vascularis with age
* Microvascular or hormonal influences
---
### 📈 *Prevalence Statistics*
* *Up to 90%* of TS patients have experienced *otitis media* at some point.
* *30–80%* have *sensorineural hearing loss, often starting in the **second or third decade of life*.
* *Conductive hearing loss* may resolve by adulthood, while SNHL tends to worsen.
---
### 🩺 *Recommended ENT Workup for Adults with TS*
* *Pure tone audiometry* and *tympanometry* (annually after age 10)
* *CT/MRI temporal bone* if asymmetric SNHL or mixed hearing loss
* *ENT consult* for ventilation tube (grommet) history or persistent ear symptoms
* *Speech & language assessment*, especially if adult was undiagnosed in childhood
* *Hearing aid evaluation* for moderate to severe SNHL
---
### 📚 Reference Papers
1. *Migliorelli et al. (2025)* – Hearing Loss and Turner Syndrome
[Full PDF](https://www.advancedotology.org/Content/files/sayilar/132/JIAO_20241723_nlm_new_indd.pdf)
2. *Lin et al. (2023)* – Hearing Loss in Turner Syndrome: Risk Factors
3. *Bondy et al. (2010)* – Sensorineural Deafness in TS
4. *Morgan (2007)* – Otologic Management in TS
[AFPhysician PDF](https://www.aafp.org/pubs/afp/issues/2007/0801/p405.pdf)
---
Would you like a *diagnostic algorithm* or *infographic* summarizing the ENT evaluation in Turner Syndrome?
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[04-06-2025 11:53] PPM 1: Thanks for these details.
Now some particular social med info on this patient's deafness.
She appears to be an intelligent woman easily following instructions by observing but unfortunately she was never provided any special education in a special school that would have accommodated her disability and had to make do with the usual education from a Government school where she studied for 6 years and then dropped out @PPM6
[04-06-2025 11.56] PPM 1: It's assumption about the short stature is correct. Here's her sister's phenotype and she's much taller than her, also with a normal carrying angle.
[04-06-2025 16:24] PPM 1: 👆Idi okkati 8:00AM
Taruwata 12:00PM half
[04-06-2025 16:25] PA: Ok
[04-06-2025 16:32] CR: He doesn't know how to type and asking meds for cough and breathlessness. Translation
[04-06-2025 16:37] PPM 7: Yes sir
[04-06-2025 16:37] PPM 1: Yes that's the picture of the med he shared is the one for cough and breathlessness where we have also suggested the dose and timings above
[04-06-2025 16:40] CR: Informed him
[04-06-2025 16:41] PA: Ok
[04-06-2025 16:49] PPM 1: Afternoon bedside clinical imageology for the above patient 👇
[07-06-2025 14.46] PA: 
[07-06-2025 16.16] PPM 1: Thanks, Mundu ninchi koddiga taggindi 👍
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