QuestionSBA
QuestionChoice
Imperforate hymen would not affect the development of secondary sexual characteristics and usually manifests with cyclical pain.
49914
c
Imperforate hymen
QuestionChoice
Androgen insensitivity syndrome occurs in people with an XY genotype; however, their body does not respond to androgens, so they fail to develop male secondary sexual characteristics.
49916
e
Androgen insensitivity syndrome
QuestionChoice
Primary amenorrhoea is diagnosed where there is absent menstruation and absent secondary sexual characteristics at age 13. Turner syndrome results from the chromosomal abnormality X0, where one X chromosome is missing. Affected individuals are phenotypically female, with short stature, webbed neck, widely spaced nipple and a wide carrying angle. They are also likely to have congenital heart defects, ovarian dysgenesis and delayed puberty.
49912
a
Turner syndrome
QuestionChoice
Whilst excessive exercise can cause amenorrhoea, including primary amenorrhoea, there is no indication this is the case in this scenario. In addition, this girl has features of Turner syndrome.
49915
d
Excessive exercise
QuestionChoice
Constitutional delay is the most common cause of delayed puberty; however, this girl has several features of Turner syndrome, making this diagnosis more likely.
49913
b
Constitutional delay
QuestionComment
how do you differentiate between androgen insensitivity syndrome & Turner's syndrome?
25803
QuestionComment
I think in androgen insensitivity syndrome, there will be normal breast tissue development due to conversion of androgen to oestrogen.
27307
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Chronic Nightshift
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# Summary
  
 
Primary amenorrhoea is a condition where menstrual periods do not start by the age of 15 in females with normal growth and secondary sexual characteristics, or at age 13 with absent pubertal maturation. The key signs and symptoms are the absence of menstruation and possibly the absence of secondary sexual characteristics. The main causes include delayed puberty, genetic abnormalities, disruptions in the hypothalamic or pituitary glands, structural abnormalities of the genital tract, and pregnancy. Investigations include hormonal and genetic tests, and imaging. Management involves treating the underlying cause, which may include hormone replacement therapy, surgery, or psychological support.
  
 
# Definition
  
Primary amenorrhoea is the failure of menstrual periods to start by 15 years of age in a female with normal growth and secondary sexual characteristics. This condition may also be diagnosed at age 13 in the presence of absent pubertal maturation as well as absent menses.
  
 
# Aetiology
  
 
Primary amenorrhoea can result from:
  
 
- Constitutional delay in puberty
- Chromosomal or genetic abnormalities, including: 
      - Turner syndrome (45 XO)
      - Kallmann syndrome
      - Androgen insensitivity syndrome
- Dysregulation of the hypothalamic or pituitary glands, which could be due to:
      - Anorexia or other eating disorders
      - Excessive exercise
      - Other forms of extreme physical or psychological stress
- Structural abnormalities of the genital tract, for example:
      - An imperforate hymen that obstructs menstrual flow (leading to haematocolpos)
      - Uterine agenesis
  
 
# Signs and Symptoms
  
The primary symptom is the absence of menstrual periods. In some cases, secondary sexual characteristics may also be absent.
  
 
# Differential Diagnosis
  
 
Possible conditions that could cause similar symptoms include those which cause secondary amenorrhoea. The key in distinguishing primary and secondary amenorrhoea is understanding if the woman has ever experienced menstruation, or periods, before. If yes, then it is secondary. Please see the chapter on secondary amenorrhoea for full details. 

 
# Investigations
  
**Bedside:**

- Speculum examination: To identify any structural abnormalities (e.g. imperforate hymen).  

**Bloods:**
 
  - Hormonal tests: Including levels of follicle-stimulating hormone (FSH), luteinizing hormone (LH), and estradiol. 

**Imaging:**
 
 - Transvaginal ultrasound scan: To identify structural abnormalities. 

**Special tests:**

  - Genetic tests: To identify chromosomal or genetic abnormalities. 

  
 
# Management
  
 
Management depends on the underlying cause and may involve:

**Conservative:**

  - Psychological support: Especially important for conditions related to stress or eating disorders, or genetic syndromes. 
  - Lifestyle modifications: For issues related to excessive exercise or low body weight. 
  
**Medical:**

  - Hormone replacement therapy: For hormonal imbalances

**Surgical:** 

  - Applicable to structural abnormalities


# NICE Guidelines

[Click here for NICE guidelines on management of primary amenorrhoea](https://cks.nice.org.uk/topics/amenorrhoea/management/primary-amenorrhoea/)

[Click here for NICE CKS: Amenorrhoea](https://cks.nice.org.uk/topics/amenorrhoea/)

# References 

[BMJ Best Practice: Assessment of primary amenorrhoea](https://bestpractice.bmj.com/topics/en-gb/1101)
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Primary amenorrhoea
Topic
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Gynaecology
10019
A 14-year-old girl is brought into the general practice by her mother, who is concerned that she doesn't seem to be physically maturing like her peers.

On examination, the girl appears short, approximately 145cm in height. She reports that she has not started her periods. She has a broad flat chest with no evidence of breast budding. She reports that she has no pubic or axillary hair.

What is the most likely cause of this girl's primary amenorrhoea?
a