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Clinical and Cytogenetic Study in Primary Amenorrhea

Vinayak Kulkarni* , Vinayak Kulkarni* , SeemaKorgaonkar** , Babu Rao Vundinti***

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Indian Journal of Anatomy 5(3):p 317-320, Sept - Dec 2016. | DOI: DOI: http://dx.doi.org/10.21088/ija.2320.0022.5316.21

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Abstract

 The failure to menstruate by the age of 16 years in the presence of normal secondary sexual characters or 14 years in the absence of other evidence of puberty defines primary amenorrhea and warrant investigations. Though its incidence is less than 0.1%, there is great challenge for clinician in compartmentalizing its etiology and cytogenetics, along with hormonal profile plays a major role in classification of primary amenorrhea. We have carried out a study in 100 cases of primary amenorrhea to evaluate the clinical and cytogenetic correlation in patients with primary amenorrhea. The patient’s clinical details were recorded in the case record sheet. The chromosome preparation was done from the peripheral blood according to standard protocol. The chromosome preparations were subjected to GTG banding and karyotyped according to the International System for Human Cytogenetic Nomenclature (ISCN 2011). The fluorescence in situ hybridization (FISH) was carried out using centromeric probes for X and Y chromosome as per the standard protocol. Of the several different causes of PA, anatomical abnormality was seen in 26% cases, ovarian failure in 47% cases and remaining 27% cases were because of constitutional delay and other factors. The chromosomal aberrations were detected in 28% cases. The present study has emphasized that cytogenetic study (karyotyping and FISH) is one of the fundamental investigations for the diagnosis and management of primary amenorrhea.

Keywords: Primary Amenorrhea (PA); Cytogenetics; Fluorescence in Situ Hybridization (FISH) Chromosomal Abnormalities (CA); Karyotype; Secondary Sexual Characters; Follicle Stimulating Hormone (FSH); Ultrasonography (USG).

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DOI: DOI: http://dx.doi.org/10.21088/ija.2320.0022.5316.21

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