Abstract
Introduction: Primary amenorrhea, the absence of menstrual cycles by 16years of age, or by 13 years with associated short stature or lack of secondary sexual characters, is most commonly due to gonadal dysgenesis and Mullerian agenesis worldwide and in previous Indian studies. Aims and Objectives: To study the clinal and etiological profile of primary amenorrhea patients presenting to our center. Methods: All cases of primary amenorrhea attending Endocrinology OP from October 2019 to October 2021 were included. Detailed history and physical examination, routine investigations, LH, FSH, TSH, testosterone and estradiol by Roche Cobase e411 and ultrasound abdomen and pelvis were done in all cases, followed by MRI pelvis or MRI brain. Serum cortisol, 11-deoxycorticosterone, 21deoxycortisol, DHEAS, dihydrotestosterone, androstenedione and 17αhydroxyprogesterone, karyotyping, laparoscopy, and gonadal biopsy were done in appropriate cases. Results: 30 patients with primary amenorrhea were included, of which nine were Turner syndrome, seven Mullerian abnormalities, six hypogonadotropic hypogonadism, three CDGP, two CAH-17 alfa hydroxylase deficiency, one case each of 17 beta hydroxysteroid deficiency CAH and Swyer syndrome. Mean age was 20.2years, oldest 33years. All Turner syndrome and 3 hypogonadotropic hypogonadism cases were short in stature. Secondary sexual characters were normal in Mullerian agenesis. Bony deformities were present in two Turner cases and one Mullerian agenesis, renal anomalies in five Mullerian agenesis and two Turner syndrome, and cardiac anomalies in three Turner cases. Hormonal profile, imaging/ karyotype confirmed the diagnosis. Mosaicism was present in 2 cases of Turner syndrome. Conclusion: Primary amenorrhea is quite common in South Indian population and clinical features correlate well with etiology, Turner syndrome being the most common etiology, followed by Mullerian agenesis and hypogonadotropic hypogonadism. Delayed age of diagnosis reflects need for increasing awareness and removing social stigma.