Introduction: Delayed onset of puberty is quite a common presentation in adolescent endocrine clinics, and the most common cause, particularly in boys is considered to be constitutional delay of growth and maturation. In girls, however, it is more likely that there is a significant underlying problem.
Objectives: To review the aetiology of pubertal delay in female patients referred to a single tertiary centre.
Methods: All female patients referred to the Endocrinology Clinic with delayed puberty, arrested puberty and primary amenorrhoea between January 2007 and December 2012 were identified using our clinic patient database. A review of medical case notes was carried out to identify the aetiology of pubertal delay, and information was also obtained on investigations, treatment, and outcome. Patients with known conditions associated with pubertal delay, pituitary/gonadotoxic therapy, or secondary amenorrhoea were excluded.
Results: Thirty-three patients were identified with a median age of presentation of 15.5 years. A total of 15 different reasons for pubertal delay were found in our population. The three most common causes were low BMI, constitutional delay (no abnormality found and no therapeutic intervention required for onset of menses) and idiopathic primary ovarian failure, but intracranial lesions (craniopharyngioma and prolactinoma), structural abnormalities of the genital tract (MayerRokitansky syndrome), and genetic/chromosomal anomalies (androgen insensitivity syndrome and Turner Mosaic) were all identified.
Conclusion: Although simple maturational delay can be a common cause of delayed puberty, in our study we found a large number (88%) of our patients had a significant underlying aetiology. Seven girls (21%) had a marked eating disorder or other reason for a very low BMI. These results confirm the importance of thorough evaluation of all girls presenting with delayed puberty.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology