Turner's Syndrome: Approach to Diagnosis and Treatment

  • Sadhana Sah Kathmandu Model Hospital, Kathmandu, Nepal
  • Ganesh Dangal Kathmandu Model Hospital, Kathmandu, Nepal
  • Aruna Karki Kathmandu Model Hospital, Kathmandu, Nepal
  • Hema Pradhan Kathmandu Model Hospital, Kathmandu, Nepal
  • Ranjana Shrestha Kathmandu Model Hospital, Kathmandu, Nepal
  • Kabin Bhattachan Kathmandu Model Hospital, Kathmandu, Nepal
  • Rekha Poudel Kathmandu Model Hospital, Kathmandu, Nepal
  • Nishma Bajracharya Kathmandu Model Hospital, Kathmandu, Nepal
  • Umesh Jha Kathmandu Model Hospital, Kathmandu, Nepal
  • Kenusha Tiwari Kathmandu Model Hospital, Kathmandu, Nepal
  • Sonu Bharati Kathmandu Model Hospital, Kathmandu, Nepal

Abstract

DOI: https://doi.org/10.3126/njog.v13i3.23476  

Turner's syndrome is the most common karyotypic abnormality causing gonadal failure and primary amenorrhea. It is characterized by short stature and absence of secondary sexual characteristics. It is diagnosed by increased plasma FSH and LH level with low level of estrogen i.e. hypergonadotrophic hypogonadism. Ultrasound abdomen reveals streak ovaries and atrophic uterus. Karyotype confirms the diagnosis of Turner's syndrome (45XO).

We present here a 15 years girl who presented with primary amenorrhea with short stature with breast development corresponds to Tanner stage I. Her FSH was raised. Ultrasound abdomen showed uterine agenesis and streak ovaries. Karyotype showed 45XO which confirmed the diagnosis of Turner's syndrome. She is now on estrogen therapy and her height has increased and breast development corresponds to Tanner stage II.

Keywords: hypergonadotrophic hypogonadism, primary amenorrhea, Turner's syndrome

Published
2019-05-20
Issue
Vol 13 No 3 (2018)
Section
Case Reports