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Case Report

Normosmic-Hypogonadotrophic-Hypogonadism in Women with Primary Infertility

Pratibha Singh, Professor, Department of Obstetrics & Gynecology, AIIMS, Jodhpur, Rajasthan- 342005. , Mathur Neha Satyaprakash1 , Pratibha Singh2 , Suyasha Vyas3

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Journal of Global Medical Education and Research 1(1):p 32-34, January- June 2018. | DOI:

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Abstract

Introduction: Hypogonadotrophic-hypogonadism is caused by defective GnRH release and results in abnormal gonadotrophin levels thus impaired pubertal development and primary infertility. Hypogonadotrophichypogonadism appears with varied syndrome complexes both phenotypically and genotypically 

Case Report: A 20 yrs old married female came with complaints of primary amenorrhea and infertility. No history of cyclic abdominal pain, trauma at birth, chronic illness in past and eating disorders. On physical examination, her height was 155cms, weight 46kgs. Her breast was developed to tanner stageI/II, pubic and axillary hair to tanner stage II/III. She had average intellectual ability and normal sense of smell. On local examination, her vulva and vagina appeared normal, and uterus was of small size. USG showed infantile uterus and small ovaries, FSH – 0.23mIU/ml, LH- 0.27mIU/ml, Estradiol – 33 mIU/ml, TSH and Prolactin levels were within normal limits. MRI showed hypoplasia in the anterior pituitary. Karyotype was 46XX. No significant positive history on pedigree  charting.

Discussion: With the breakthrough in molecular genetics, identification of genetic abnormality has become possible for the diagnosis the pattern of familial inheritance. Thus management of cases of hypogonadotrophic hypogonadism should not be restricted to individual patient but proper pedigree charting and genetic diagnos must always be added to optimize the management. These cases need hormonal treatment to develop their secondary sexual characters as well as for fertility.

Conclusion: A through workup of young females presenting with primary amenorrhoea is often rewarding for the patient and the physician. Appropriately timed hormonal treatment can help in proper development of secondary sexual characters as well as fertility.

Keywords: Hypogonadotrophic-Hypogonadism; Primary Amenorrhoea.

 

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