CASE SERIES OF PRIMARY AMENORRHOEA

Abstract

INTRODUCTION: Amenorrhoea is absence of absence of menstruation. Amenorrhea can be a transient, intermittent, or permanent condition
resulting from dysfunction of the hypothalamus, pituitary, ovaries, uterus, or vagina. It is often classied 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
dened 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 breast development, evaluation for primary amenorrhea should also begin.
Ÿ 20year old phenotypically appearing female admitted with primary amenorrhoea for CASE 1: further management.
Ÿ k/c/o DM since 2 years, on OHA
Ÿ Underwent bilateral gonadectomy , nal HPE report features are of focal spermatogenesis
Ÿ 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.
Ÿ 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 brain -pituitary showed small size for age.
Patient was started on HRT to maintain secondary sexual characteristics and prevention of osteoporosis.
Ÿ CASE 3: 17year old phenotypically appearing female was referred in view of primary amenorrhoea and for further management.
Retro-positive status
Ÿ She underwent bilateral gonadectomy , nal HPE report features are suggestive of testicular regression favours testicular feminisation syndrome.
Karyotyping showed 46XY
Ÿ 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.
Ÿ CASE 5: 16year old phenotypically appearing female admitted with primary amenorrhoea for further management.
k/c/o seizure disorder
Underwent bilateral gonadectomy with clitorectomy, nal HPE report features are of spermatogenesis
Karyotyping showed 46XY
CONCLUSION: Early recognition and appropriate investigations will help in improving the quality of life.
Ÿ Counselling of both patient and their parents should be done and infertility and reproductive options must be discussed.
Ÿ Karyotyping is denitely to be done for evaluation for appropriate counselling