Turner's Syndrome: Approach to Diagnosis and Treatment

Sadhana Sah; Ganesh Dangal; Aruna Karki; Hema Pradhan; Ranjana Shrestha; Kabin Bhattachan; Rekha Poudel; Nishma Bajracharya; Umesh Jha; Kenusha Tiwari; Sonu Bharati

Authors

Sadhana Sah Kathmandu Model Hospital, Kathmandu, Nepal http://orcid.org/0000-0002-3319-5516
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

Keywords:

hypergonadotrophic hypogonadism, primary amenorrhea, Turner's Syndrome

Abstract

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

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