Life was going smooth for this young 18 yr old when periods suddenly stopped after getting scanty and irregular over 2 to 3 years. Just like every other girl she got her first menses at 13 yrs of age.
She had regular cycles for 6 months following menarche 5-6/30days, following which cycles became irregular with scanty bleeding once in 4-6 months.
Her elder sister of 22 yrs had no issues with her menstrual cycles
As everyone would do she saw a gynaecologist in her hometown and was diagnosed to have a skin condition called Lichen Sclerosis, where the lips of the labia were fused which was confirmed by a skin biopsy.
To her big surprise baseline ultrasound performed revealed small ovaries and under developed uterus.Hence genetic testing was done , which confirmed her condition to be mosaic Turner’s Syndrome.(46X,DEL(X)q22 variant pattern)
Clinical examination revealed she was short stature with normal weight.Breast development, axillary and pubic hair development was normal.Harmonal evaluation revealed elevated levels harmone called FSH which suggested that ovaries were failing.Couselling was done regarding her condition and treatment options.Informed shared decision was taken to go ahead with surgery. We as a team at Aster hospital perfomed operation under Ultrasound guidance, a small pencil sized camera called hysteroscope was introduced through small opening just below urinary opening ( Urethra) which was thought to be vagina. After confirmation opening was widened.Postoperative recovery was good.
She was prescribed cyclical harmonal pills for regular bleeding and Vitamin D supplements for bone health. For future reproductive plan she was counselled for donor eggs and partner’s sperm to form embryos so that she can carry pregnancy in her own womb.She’s due for her review in 6 months .
Turners syndrome is a monosomy that results from partial or complete loss of second X chromosome.Its occurence is 1:2500 female live birth.
The exact etiology of most Turners syndrome manifestation remains unclear .All individuals with turners syndrome doesnt have the same sex chromosome composition.Around 50 % of cases occur as a result of complete missing of second X chromosome,45XO.Other common karyptypes include 45,X/46,XX mosaicism isochromosomes of the Xp or X q,ring X chromosome and presence of a Y chromosome,in some cases Y chromosome being structurally abnormal.
Common manifestation of Turners syndrome include delayed growth,premature ovarian failure ,congenital cardiac defects,endocrine disorders ,skeletal and renal abnormalities.Intelligence is usually normal in affecte individuals but many experience learning disabilities.
An estimated 99% of 45XO fetus are aborted during first trimester and therefore it is possible that there is unidentified mosaicism in survivors with decreased severity.The syndrome may be diagnosed before birth or shortly after birth or during early childhood.Sometimes it may not be diagnosed until late adulthood.Median age of diagnosis is 15y.
Diagnosis is made by cytogenetic testing,gold standard in diagnosing turners is G banded chromosome analysis with use of FISH with X and Y specific probes when mosaicism is suspected .
Primary treatment for patent is growth hormone therapy to maintain body stature.Estrogen replacement therapy is important as they are at increased risk of premature ovarian failure resulting in delayed puberty and amenorrhea.Even after puberty they are at risk of early menopause due to POF.Exogenous estrogen have protective effect on bone density,cardiovascular health,neurocognition and sexual function.Even after receiving Gh/HRT patients need multidisciplinary follow up due to involvement of other system
