Progressive Oestrogen Deficiency in a Young Woman with 45X/46XX Mosaicism: A Case Report

Abstract

Oestrogen is a vital hormone for woman’s health. Naturally, oestrogen hormone level begins to gradually decline leading to related symptoms after the age of 40 years in most women. This case report illustrates a progressive oestrogen deficiency in young woman since she was 19 years old. She was having hypomenorrhea for a year followed with amenorrhoea and was managed conservatively including progestogen challenge for about a year. She responded to the treatment once and remained amenorrhoeic thereafter. She was referred to our centre at 22 years old for further evaluation of premature ovarian insufficiency primarily concerning her fertility. Clinical examination showed a thin young woman with breasts, axillary and pubic hair of Tanner Stage 3. Blood investigation showed low oestrogen level with persistently high gonadotrophins suggestive of primary ovarian insufficiency. The urogenital pelvic ultrasound showed a small thin uterus with normal ovaries. She was diagnosed with Turner Syndrome of 45X/46XX mosaicism based on a blood karyotype test. The lack of typical feature of Turner Syndrome in this case had delayed the initial investigations and management. This case report aimed to highlight on the importance of a comprehensive evaluation in young women presenting with chronic oestrogen deficiency state. This will allow an early diagnosis and treatment of rare condition like mosaic Turner Syndrome and thus, preventing complications.