Endocrine Abstracts

Turner syndrome results from the complete or partial lack of one X chromosome and occurs in approximately 1:2500 female live births. The incidence of spontaneous puberty in the 45, X karyotype is about 9%. Spontaneous pregnancy has been reported in less than 5% of the cases, the majority of which have been described in subjects with mosaicism; these are often associated with high rates of miscarriage and stillbirth.

A 51-year-old check-out supervisor was referred to our adult turner syndrome clinic for follow-up care. She had spontaneous puberty with menarche at the age of 14, but reported irregular periods. She had four spontaneous pregnancies (two daughters aged 28 and 14 and two sons aged 30 and 22 years) and a number of recurrent miscarriages between her third and fourth pregnancies. Further investigations for the pregnancy losses had led to the diagnosis of Turner syndrome (45, X) at the age of 34. She had her menopause at the age of 37.

The clinical examination, when seen in our Clinic, revealed increased carrying angle of the elbow, wide neck and short 4th metacarpals and metatarsals. Her height was 145.8 cm, her BMI 35.5 kg/m² and her BP 148/100 mmHg. No further abnormalities were detected on the systemic examination.

Blood tests showed high thyroid peroxidase antibodies with biochemical euthyroidism. Her blood glucose, renal and liver profiles were normal.

Echocardiogram showed normal aortic valve and aortic root size. Ultrasound of the kidneys and DEXA scan were normal. Her karyotype was re-checked in 2008, 110 cells were examined with no evidence of mosaicism and confirmed the original findings of 45, X.

We are reporting a very rare case of 45, X Turner syndrome who had spontaneous puberty, four successful pregnancies but also had four spontaneous deliveries of healthy children.