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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 par- ticular 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.
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.
· What is the most likely diagnosis and how might this be confirmed?
· What are the principles of management for this girl?
The clinical features are typical of those of Turner’s syndrome. This genetic condition is associated with the absence of one X chromosome (XO karyotype), occurring in approxi- mately 1 in 2500 live female births. It is confirmed on chromosomal analysis.
In rare cases it may occurs 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.
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.
· the short stature should be treated to enable the girl to reach her full height poten- tial. Human growth hormone is given to achieve this.
· oestrogen therapy initially with ethinyl estradiol enables secondary sexual charac- teristics of breast development and pubic and axillary hair to develop. Cyclical progestogens are added later to induce a withdrawal bleed (‘period’) for social rea- sons 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 in this girl.
· Fertility: fertility options are available with ovum donation and hormonal support.
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