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ABSTRAKLatar Belakang: Kualitas hidup dan fertilitas merupakan isu yang ingin ditangani pada kasus amenorhea primer, dan kedua masalah ini menjadi alasan utama pasien mencari pengobatan. Penundaan diagnosis dan tatalaksana dapat mempengaruhi masa depan jangka panjang pasien. Walaupun prevalensi amenorhea primer sangat jarang (<0.1%), belum didapatkan data di senter pelayanan rawat jalan poliklinik Endokrinologi-Reproduksi RSCM. Tujuan: Meneliti karakteristik pasien amenorhea primer yang ditemui di poliklinik endokrinologi RSCM selama tahun 2014. Metode: Telaah retrospektif rekam medik dengan desain studi deskriptif kategorik terhadap pasien amenore primer yang berobat jalan di poliklinik imunoendokrinologi-reproduksi RSCM selama tahun 2014. Hasil dan simpulan: Terdapat 57 subyek penelitian. Selama 1 tahun terdapat 74% kasus baru dan 26% kasus lama, mayoritas kasus rujukan (79%) dengan karakteristik: Usia pada awal kontrol 22 ± 5.9 tahun. Keluhan utama yang tersering ditemukan adalah belum menstruasi (91.2%). Keluhan penyerta lain berupa gangguan pertumbuhan seks sekunder (8.7%). Sebanyak 93% tidak memiliki riwayat operasi dan obatan. Setengah populasi (50%) pasien tidak pernah mengalami perdarahan haid. Indeks massa tubuh pasien sebesar 20.77±3.5 kg/m2. Sebanyak 22.8% pasien amenore primer berperawakan kecil, serta 56.14% pasien amenore primer tidak memiliki pertumbuhan seks sekunder. Sebanyak 98.3% pasien tanpa hirsutisme, pembesaran tiroid, galaktore atau massa inguinal. Sebanyak 68.5 % dengan genitalia eksterna normal. Sebanyak 56.2% pasien dengan hipoplasi uterus, dan 49.1% dengan hipoplasi ovarium. Amenore primer hipergonadotropin-hipogonadisme adalah profil lab yang tersering ditemukan (33.33%). Dari gambaran kariotipe tersering 38% adalah 46XX. Etiologi dasar pada yang tersering adalah disgenesis gonad (36.8%), diikuti kelainan pembentukan duktus muller (28.07%) dan kelainan sentral (15.79%). Tatalaksana yang dilakukan terhadap kasus amenore primer berupa, induksi haid 42.1% dengan terapi hormonal. Pasien yang mendapat terapi hormonal, 24.56% mengalami perdarahan sela; Pada 28% mengalami perubahan klasifikasi Tanner. Operasi penyesuaian jender dilakukan pada 5 kasus (11%).
ABSTRACTBackground : Quality of life and fertility are the two main issues to be handled in cases of primary amenorhea, as they become the main reasons for patients to seek medical care. Delay in diagnosis and treatment may affect the patient in the long term. Prevalence of primary amenorrhea is very rare (<0.1%) and there is minimal data on our reproductive endocrinology clinic at RSCM. Aim: To study the characteristics of primary amenorrhea patients at the reproductive endocrinology outpatient clinic during 2014. Methods: retrospective medical record review with cathegorical descriptive study to patients at reproductive-imunoendocrinology outpatient clinic during 2014. Results and conclusion: There were 57 study subjects. During 1 year there wer e74% new cases and 26% old cases with majority of referred casess(79%) with characteristics as such. Age at first control was 22 ± 5.9 years old. The most frequent chief complaint were no menstruation (91.2%). Other frequent complaint were disorder of secondary sex characteristics (8.7%). As much as 93% did not have history of surgery nor medication. Half of the cases (50%) never had menstruation. Body mass index mean was 20.77±3.5 kg/m2. As much as 22.8% patients were short-statured with 56.14% with no signs of secondary sex characteristics growth. Mostly (99.3%) patients had no hirsutism, thyroid enlargement nor inguinal. Normal external genitalia was found at 68.5% cases. 56.2% patient had uterus hipoplasia, and 49.1% with hipoplasia of the ovaries. Most often laboratory profile found was hypergonadotropin-hypogonadism (33.3%). Most frequent karyotpe were 46XX (38%). Most frequent etiology of primary amenorrhe in this study is gonadal dygenesis (36.8%) and mullerian dysgenesis/agenesis, and central disorders (15.79%). Most frequent etiology found was gonadal dysgenesis (36.8%), mullerian dysgenesis (28.07%) and central disorder (15.79%). Hormonal therapy was the most frequent treatment (42.1%). on patient with hormones, 24.6% had breakthrough bleeding, 28% had Tanner stage changes, and 11% had gender change. ;Background : Quality of life and fertility are the two main issues to be handled in cases of primary amenorhea, as they become the main reasons for patients to seek medical care. Delay in diagnosis and treatment may affect the patient in the long term. Prevalence of primary amenorrhea is very rare (<0.1%) and there is minimal data on our reproductive endocrinology clinic at RSCM. Aim: To study the characteristics of primary amenorrhea patients at the reproductive endocrinology outpatient clinic during 2014. Methods: retrospective medical record review with cathegorical descriptive study to patients at reproductive-imunoendocrinology outpatient clinic during 2014. Results and conclusion: There were 57 study subjects. During 1 year there wer e74% new cases and 26% old cases with majority of referred casess(79%) with characteristics as such. Age at first control was 22 ± 5.9 years old. The most frequent chief complaint were no menstruation (91.2%). Other frequent complaint were disorder of secondary sex characteristics (8.7%). As much as 93% did not have history of surgery nor medication. Half of the cases (50%) never had menstruation. Body mass index mean was 20.77±3.5 kg/m2. As much as 22.8% patients were short-statured with 56.14% with no signs of secondary sex characteristics growth. Mostly (99.3%) patients had no hirsutism, thyroid enlargement nor inguinal. Normal external genitalia was found at 68.5% cases. 56.2% patient had uterus hipoplasia, and 49.1% with hipoplasia of the ovaries. Most often laboratory profile found was hypergonadotropin-hypogonadism (33.3%). Most frequent karyotpe were 46XX (38%). Most frequent etiology of primary amenorrhe in this study is gonadal dygenesis (36.8%) and mullerian dysgenesis/agenesis, and central disorders (15.79%). Most frequent etiology found was gonadal dysgenesis (36.8%), mullerian dysgenesis (28.07%) and central disorder (15.79%). Hormonal therapy was the most frequent treatment (42.1%). on patient with hormones, 24.6% had breakthrough bleeding, 28% had Tanner stage changes, and 11% had gender change. , Background : Quality of life and fertility are the two main issues to be handled in cases of primary amenorhea, as they become the main reasons for patients to seek medical care. Delay in diagnosis and treatment may affect the patient in the long term. Prevalence of primary amenorrhea is very rare (<0.1%) and there is minimal data on our reproductive endocrinology clinic at RSCM. Aim: To study the characteristics of primary amenorrhea patients at the reproductive endocrinology outpatient clinic during 2014. Methods: retrospective medical record review with cathegorical descriptive study to patients at reproductive-imunoendocrinology outpatient clinic during 2014. Results and conclusion: There were 57 study subjects. During 1 year there wer e74% new cases and 26% old cases with majority of referred casess(79%) with characteristics as such. Age at first control was 22 ± 5.9 years old. The most frequent chief complaint were no menstruation (91.2%). Other frequent complaint were disorder of secondary sex characteristics (8.7%). As much as 93% did not have history of surgery nor medication. Half of the cases (50%) never had menstruation. Body mass index mean was 20.77±3.5 kg/m2. As much as 22.8% patients were short-statured with 56.14% with no signs of secondary sex characteristics growth. Mostly (99.3%) patients had no hirsutism, thyroid enlargement nor inguinal. Normal external genitalia was found at 68.5% cases. 56.2% patient had uterus hipoplasia, and 49.1% with hipoplasia of the ovaries. Most often laboratory profile found was hypergonadotropin-hypogonadism (33.3%). Most frequent karyotpe were 46XX (38%). Most frequent etiology of primary amenorrhe in this study is gonadal dygenesis (36.8%) and mullerian dysgenesis/agenesis, and central disorders (15.79%). Most frequent etiology found was gonadal dysgenesis (36.8%), mullerian dysgenesis (28.07%) and central disorder (15.79%). Hormonal therapy was the most frequent treatment (42.1%). on patient with hormones, 24.6% had breakthrough bleeding, 28% had Tanner stage changes, and 11% had gender change. ]"
