Endocrine Abstracts

Introduction: I present here a patient with congenital adrenal hyperplasia and Fragile X syndrome. The two conditions are rare and not known to be related to each other.

Clinical case: A 26-years-old lady was referred to Endocirne clinic with primary amenorrhoea. She complained of hirsutism and some facial acne since 14 years of age. To the best of her recollection her thelarche was around 12 years of age and pubic hair started to appear at 10 years of age. She did have a bit delayed milestones in childhood and was diagnosed with mild learning difficulties. She used to be a tall girl in her childhood in school but later on she was not much different from her friends. None of her parents had history of delayed puberty. She was the only child. She was under the care of gynaecology team since the age of 16 in view of amenorrhoea. She had a working diagnosis of PCOS but she had no menstrual bleeding with combined oestrogen-progesterone pill or medroxy-progesterone challenges. Her endometrial thickness on USS scans was 4–5 cm over the years. Her BMI was 33, no facial or body hirsutism, no central obesity, skin bruising or supra-clavicular pad of fat. Breast development was complete and pubic and axillary hair growth was normal. Her 17-OH progesterone was 36.6, SST showed a rise in 17-OH progesterone to 49.6, testosterone was 3.4, LH 2.8, FSH 4.2, oestrogen 157, chromosomal analysis returned 46 XX and mutation in FMR1 was found confirming Fragile X syndrome.

Treatment and conclusion: She was commenced on prednisolone to help reduce testosterone and progesterone levels which eventually should help her with her periods. She had a light bleed 3 months after the start of steroids. We arranged counselling for her in view of Fragile X syndrome. Congenital adrenal hyperplasia (CAH) is much less common than polycystic ovarian syndrome (PCOS) and there is overlap in the clinical symptoms of the two conditions. The diagnosis of PCOS should be revised if the initial treatment does not get the desired response.