QuestionSBA
QuestionChoice
This is an X-linked recessive disorder
32014
b
Duchenne muscular dystrophy
QuestionChoice
This is typically an X-linked recessive disorder
32015
c
Androgen insensitivity syndrome
QuestionChoice
This is a chromosomal disorder due to the loss of part or all of an X chromosome, the most common karyotype being 45X. Most cases of Turner syndrome are not inherited. However, it is a major genetic cause of premature ovarian failure
32017
e
Turner syndrome
QuestionChoice
This is an autosomal recessive disorder that may also cause premature ovarian failure
32016
d
Galactosemia
QuestionChoice
The disease in question is fragile X syndrome, which is one of the genetic causes of premature ovarian failure and has **X-linked dominant inheritance**. Rett syndrome is another X-linked dominant neurodevelopmental disorder that occurs almost exclusively in females
32013
a
Rett syndrome
QuestionComment
Super niche and unneccessary preclinical question
8949
User
subscriber
Lateral Abrasion
QuestionComment
behave
11583
User
subscriber
Gas Suture
QuestionComment
would it present this late?
22499
User
subscriber
Odor Dominant
Concept
Chapter
# Summary
  
 
Premature ovarian insufficiency (POI) is a condition characterised by menopause in women aged below 40 years. The key signs and symptoms include vasomotor disturbances such as hot flushes and night sweats, sexual dysfunction, and psychological issues. The diagnosis is confirmed by elevated FSH levels, which should be repeated to rule out anomalous results. The main management approach is hormone replacement therapy (HRT) until the age of normal menopause, unless contraindicated.
  
 
# Definition
  
 
Premature ovarian insufficiency (POI) is a medical condition characterised by the onset of menopause (ovarian insufficiency) in a woman aged below 40 years. 
  
 
# Epidemiology
  
 
The exact prevalence of POI is not known, but it's estimated to affect approximately 1% of women under the age of 40.
  
 
# Aetiology
  
 
The aetiology of POI can be idiopathic or iatrogenic. Iatrogenic causes include invasive procedures or treatments such as ovarian surgery, radiotherapy, or chemotherapy that directly impact the ovaries.
  
 
# Signs and symptoms
  
Women with POI typically develop the same symptoms as those undergoing natural menopause:
  
 
  - Vasomotor symptoms: hot flushes, night sweats
  - Sexual dysfunction: vaginal dryness, reduced libido, problems with orgasm, dyspareunia
  - Amenorrhoea: infrequent or no periods 
  - Psychological symptoms: depression, anxiety, mood swings, lethargy, reduced concentration
  
 
# Differential diagnosis
  
 
When evaluating for POI, it is essential to rule out other conditions that could present with similar symptoms and cause amenorrhea:
  
 
1.  **Hypothyroidism:** presents with fatigue, weight gain, cold intolerance, depression, hair loss. 
2. **Hyperprolactinemia:** irregular menstrual cycles, infertility, breast milk production not related to childbirth or nursing. 
3. **Polycystic Ovary Syndrome (PCOS):** irregular periods, hirsutism, obesity, infertility. Will have raised LH:FSH ratio. 
  
 
# Investigations

**Bedside:**
 
* Pregnancy test (to rule out pregnancy as cause of amenorrhea)

**Bloods:** 

* FSH levels: two samples taken 4-6 weeks apart, showing raised FSH levels is required for diagnosis
* anti-Mullerian Hormone (AMH) level: may be low, but not required for diagnosis 
* LH level: may be raised, but not required for diagnosis 

Other blood tests to rule out alternative causes:

* Prolactin 
* TFTs


**Imaging:**

No imaging is required for diagnosis. However transvaginal ultrasound scan may show small ovaries and poor perfusion. 
 

 
# Management
  
 
 - The primary management strategy for women with POI is to offer hormone replacement therapy (HRT) until at least the expected age of menopause, unless the risks of HRT treatment outweigh the benefits. 
 - Additionally, psychological support should be provided due to the potential mental health impacts of early menopause.
 - Vaginal oestrogen can also be provided for women experiencing vaginal dryness and subsequent dyspareunia. 
  
 
# Complications  

* Osteoporosis: Declines in oestrogen leads to loss of bone mineral density due to disruption in bone remodelling.  
* Cardiovascular disease: Oestrogen has cardioprotective effects, its decline leads to alternations in lipid profiles, inflammatory changes and endothelial dysfunction. 
* Infertility: Ovarian insufficiency leads to impaired development of ovarian follicles and ovulation, leading to infertility.  
 
 
# NICE Guidelines
  
 
  [Click here for the NICE guidelines on the menopause](https://www.nice.org.uk/guidance/ng23)
 
# References

[British Menopause Society](https://thebms.org.uk/publications/consensus-statements/premature-ovarian-insufficiency/)
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978
Premature ovarian insufficiency
Topic
26
Gynaecology
6403
Fragile X syndrome and Rett syndrome both exhibit X-linked dominant inheritance patterns, affecting primarily females.
A 30 year old female presents to the GP surgery with a 6 month history of amenorrhoea. She is not sexually active and has had no previous pregnancies. Laboratory testing revealed elevated follicle stimulating hormone (FSH) and luteinising hormone (LH). Genetic testing reveals a mutation in the FMR1 gene causing an expansion of a trinucleotide repeat sequence "CGG".

Which of the following diseases is most likely to share the same mode of inheritance?
a