Volume : VIII, Issue : XII, December - 2019

CASE SERIES OF PRIMARY AMENORRHOEA

Anitha C, Dr. Deepa Kanagal V

Abstract :

INTRODUCTION: Amenorrhoea is absence of menstrual bleeding. Amenorrhea can be a transient, intermittent, or permanent condition resulting from dysfunction of the hypothalamus, pituitary, ovaries, uterus, or vagina. It is often classified as either primary (absence of menarche by age 15 years or thereafter) or secondary (absence of menses for more than three months in girls or women who previously had regular menstrual cycles or six months in girls or women who had irregular menses). Primary amenorrhea, seen in approximately 2.5% of the population, is clinically defined as the absence of menses by age 13 years in the absence of normal growth or secondary sexual development; or the absence of menses by age 15 years in the setting of normal growth and secondary sexual development. However, at age 13 years, if the girl has not menstruated and there is a complete absence of secondary sexual characteristics such as east development, evaluation for primary amenorrhea should also begin.  CASE 1: 20year old phenotypically appeå female admitted with primary amenorrhoea for further management. k/c/o DM since 2 years, on OHA Underwent bilateral gonadectomy , final HPE report features are of focal spermatogenesis Karyotyping showed 46XY In patients who develop virilization and have a XY karyotype, the gonads should be removed immediately to preserve the female phenotype and female gender identity. The patients with CAIS should be followed up after gonadectomy as they have the signs and symptoms of postmenopausal woman. Therefore, oral conjugated estrogen or transdermal estrogen should be administered for relieving these symptoms.  CASE 2: A 25year old female was referred to father muller hospital in view of primary amenorrhoea and outside scan showed absent uterus with streak gonads. Karyotyping showed MOS 45, X0(17)/46, X, r(x) MRI ain –pituitary showed small size for age. Patient was started on HRT to maintain secondary sexual characteristics and prevention of osteoporosis.  CASE 3: 17year old phenotypically appeå female was referred in view of primary amenorrhoea and for further management. Retro–positive status  She underwent bilateral gonadectomy , final HPE report features are suggestive of testicular regression favours testicular feminisation syndrome. Karyotyping showed 46XY  CASE 4: 20year old came with primary amenorrhoea with delayed development of secondary sexual characteristics. Karyotyping showed 46XY. She underwent laparoscopic bilateral salphingogonadectomy. HPR reported as gonadoblastoma with dysgerminoma.  CASE 5: 16year old phenotypically appeå female admitted with primary amenorrhoea for further management. k/c/o seizure disorder Underwent bilateral gonadectomy with clitorectomy, final HPE report features are of spermatogenesis Karyotyping showed 46XY Conclusion Early recognition and appropriate investigations will help in improving the quality of life.  Counselling of both patient and their parents should be done and infertility and reproductive options must be discussed.  Karyotyping is definitely to be done for evaluation for appropriate counselling.

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Article: Download PDF    DOI : 10.36106/ijsr  

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CASE SERIES OF PRIMARY AMENORRHOEA, Anitha C, Dr. Deepa Kanagal V INTERNATIONAL JOURNAL OF SCIENTIFIC RESEARCH : Volume-8 | Issue-12 | December-2019

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