They are usually of shorter stature, they usually appear in teenage years due to lack of developmental disorder.
Some of these features are seen in this picture. They do have a uterus and maybe very small ovaries and the ovarian failure leads to Amenorrhoea. Diagnosis is made by clinical features, chromosomal analysis and ultrasound.
The current medical research in IVF can help some of these women to achieve a pregnancy with donor eggs.
I had two such patients that I looked after, they require hormone replacement to keep them healthy until the normal age of menopause.
The other common cause of primary amenorrhoea can be what we call Congenital Hyperplasia. This is due to a deficiency of a particular enzyme.
As a result of this the female baby becomes masculinised, it can happen in male foetuses as well, these babies are born with ambiguous genitalia but their chromosomes are normal.
These children have multiple problems with adrenal function. they need to be treated with paediatric endocrinologists.
Many other causes of primary amenorrhoea are tumours of the pituitary, failure of the female organs to develop and the failure of the organs to function.
Primary Amenorrhoea is a difficult complex disorder of infancy, child hood adolescence it needs to be treated by a group of experts including paediatricians and gynaecologists.
However don't forget the simple diagnosis of pregnancy should not be forgotten as a young girl with normal secondary sexual characters maybe pregnant although she has not had a period. The very first ovulation she can conceive. I have seen two such cases in my time. One of these girls was only twelve years of age and was brought to hospital at full term in labour.
This is just a very brief summary of Primary Amenorrhoea just to point out some important points;
1- When a baby is born with ambiguous sex it should be seen urgently by a paediatrician.
2- Babies suffering from Congenital Adrenal Hyperplasia (CAH) can be both male or female and their external sex is confusing, they also suffer from salt losing problems. They are life threatening and should be seen by a paediatrician.
3- The most common causes of Primary Amenorrhoea are Chromosomal Abnormalities - 50%
4- Hypothalamic Hypogonadism including Hypothalmic Amenorrhoea - 20%
5- Malformation of pelvic organs for example absence of the uterus, vaginal septum and imperforate hymen -20%
6- Pituitary disease , like tumours and infections -5%
7- Excessive weight loss like Anorexia Nervosa , obesity, psychiatric disorders and malnutrition -5%
The investigations are mainly;
1- Chromosomes, 2- Imaging, 3- Hormone Studies
Treatment depends on the cause mainly;
1- Lifestyle Factors, 2- Hormones, 3- Surgical Corrections
Finally don't forget pregnancy and take your child for medical advise as soon as possible.
