Endocrine Abstracts

Female with primary hypogonadism have inadequate function of the ovaries, with impaired production of germ cells (eggs) and sex hormones (oestrogen and progesterone). We recently came across a 22-year old female with short stature in childhood and adulthood she received growth hormone treatment (due to arrested puberty) between 3-5 years of age and further treatment at age of 10 years. She had history of IUGR, primary amenorrhoea, sensorineural deafness, congenitally missing teeth, anxiety, depression, severe vitamin D deficiency & secondary hyperparathyroidism. Examination shows height was 142.1 cm (4ft 7in) and weight 37.8 kg. Breast development was good (Tanner stage 4/5). Very mobile fingers and toes noted. Investigations showed significantly low oestradiol <60 pmol/l, and the LH was 28.6IU/l, FSH 52.6IU/l. The AMH level was low at 0.7 nmol/l. Ovarian antibody was negative, TFTs were normal. In past she had chromosomal analysis which showed normal karyotype. Imaging suggested her bone age was corresponding to 17 years and the USS uterus did not show any major abnormality (except slightly small uterus) It’s quite like she has Perrault syndrome, though this need to be confirmed by genetic analysis, which is awaited. She was started on evorel (oestrogen) patch 25 mg and plan is to optimise the dose until she gets period and then she could be on the HRT. She was also started on vit D due to significantly low level 13 nmol/l. She remains under the follow up of endocrine team. Perrault syndrome is an inherited autosomal recessive condition characterized by sensorineural hearing loss and abnormalities of the ovaries. Neurological problems may also occur. The condition has several genetic causes.