Case 24: Amenorrhoea

 

Case 24: Amenorrhoea

CASE 24: AMENORRHOEA

History

A 14-year-old girl is seen by her general practitioner because her mother is worried that her

periods have not started. Her older sister started at 13 years and her younger sister has just

started her periods at 12 years, and she is now embarrassed at school as her friends are always

discussing their periods and she has not told them that she has not had one.

Her mother is also concerned because she has not developed pubic and axillary hair or

breast enlargement.

She was born at 38 weeks by spontaneous vaginal delivery and has never had any particular

medical problems. She reached all her developmental milestones as a child, although has not

started a teenage growth spurt and is the second shortest girl in her class.

She eats normally with her family and denies any eating disorder. She takes part in school

sport but does not exercise to excess.

She is sociable with her friends but has never had a boyfriend.

Her school academic performance is about average, although she does not do as well as her

siblings who are all in the top streams of their years.

Examination

On examination she is 120 cm and weighs 59 kg. She has no abnormal facial features but has

a wide carrying angle (cubitus valgus) and a wide neck. There is no apparent breast development and the nipples appear widely spaced. No axillary hair growth is apparent.

Abdominal examination is unremarkable. The external genitalia are normal though no pubic

hair is visible. Internal examination is not performed.

INVESTIGATIONS

Normal range

Follicle-stimulating hormone 24 IU/L 1–11 IU/L

Luteinizing hormone 20 IU/L 0.5–14.5 IU/L

Oeastradiol 84 pmol/L 70–510 pmol/L

Prolactin 239 mu/L 90–520 mu/L

Karyotype: 45XO

Free thyroxine 17 pmol/L 11–23 pmol/L

Transabdominal ultrasound report: the uterus appears small and anteverted. The endometrium appears smooth and thin, measuring 2.4 mm. Both ovaries are visualized and

appear to be of small volume. No follicles are seen.

Questions

• What is the most likely diagnosis and how might this be confirmed?

• What are the principles of management for this girl?100 Cases in Obstetrics and Gynaecology

58

ANSWER 24

The clinical features are typical of those of monosomy X (Turner’s syndrome). This

genetic condition is associated with the absence of one X chromosome (45 XO karyotype), occurring in approximately 1 in 2500 live female births. It is confirmed on chromosomal analysis.

In rare cases it may occur as a mosaic form (XX/XO), in which case the features are milder

and the woman may start menstruating but then experience premature ovarian failure and

secondary amenorrhoea.

! Common clinical features of Turner’s syndrome

• Webbed neck

• Broad chest with widely spaced nipples (‘shield chest’)

• Wide carrying angle (cubitus valgus)

• Short stature (maximum 150 cm without treatment)

• Short fourth metacarpal

• Low-set ears

• Low hairline

• Hypoplastic nails

• Hypertension

• Congenital heart disease (e.g. coarctation of the aorta)

Management

Management of Turner’s syndrome should be carried out in a specialist referral centre.

• Psychological: the implications of Turner’s syndrome diagnosis are devastating for

the child and for the family. The absence of periods may be stigmatizing and the

long-term lack of fertility is a very serious concept that may be difficult for a young

girl to comprehend.

• Medical:

• The short stature should be treated to enable the girl to reach her full height

potential. Human growth hormone is given to achieve this.

• Oestrogen therapy initially with ethinyl estradiol enables secondary sexual characteristics of breast development and pubic and axillary hair to develop. Cyclical

progestogens are added later to induce a withdrawal bleed (‘period’) for social

reasons and to protect the endometrium from hyperplasia or malignancy in the

long term. Some form of oestrogen therapy then needs to be continued until the

time of natural menopause (ideally 50 years) to prevent early-onset osteoporosis.

• Fertility: fertility options are available with ovum donation and hormonal support.

KEY POINTS

• Turner’s syndrome is a cause of primary amenorrhoea.

• Most girls will be diagnosed in early childhood because of small stature or other

physical features, but some will only be diagnosed when menarche fails to occur.

• Treatment, usually hormonal, to protect bone density is essential.