Unraveling of Diagnosis Odyssey in A Girl with Primary Amenorrhea: A case report

ABSTRACT Background:Primary amenorrhea may result from congenital abnormalities in the development of the gonads, genital tract, or external genitalia or from a disturbance within the hypothalamic-pituitary-ovarian axis. Gonadal dysgenesis is a disorder of sex development in which the diagnosis is...

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Autores principales:	Ni Made Indri Dwi Susanti, Inu Mulyantoro, Dik Puspasari, Nurin Aisyiyah Listyasari, Sultana MH Faradz
Formato:	article
Lenguaje:	EN
Publicado:	Diponegoro University 2020
Materias:	primary amenorrhea gonadal dysgenesis disorders of sexual development genetic mutation Medicine (General) R5-920
Acceso en línea:	https://doaj.org/article/aa81b90265564291b19b387c738d5793
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spelling	oai:doaj.org-article:aa81b90265564291b19b387c738d57932021-11-05T16:47:32ZUnraveling of Diagnosis Odyssey in A Girl with Primary Amenorrhea: A case report2503-217810.14710/jbtr.v6i1.6218https://doaj.org/article/aa81b90265564291b19b387c738d57932020-04-01T00:00:00Zhttps://ejournal2.undip.ac.id/index.php/jbtr/article/view/6218https://doaj.org/toc/2503-2178ABSTRACT Background:Primary amenorrhea may result from congenital abnormalities in the development of the gonads, genital tract, or external genitalia or from a disturbance within the hypothalamic-pituitary-ovarian axis. Gonadal dysgenesis is a disorder of sex development in which the diagnosis is based on the histology of gonads and is the main cause of primary amenorrhea. Optimal protocol of management for phenotypic female with 46, XY gonadal dysgenesis involves prophylactic gonadectomy at diagnosis. Case Presentation: The patient was referred to our hospital at the age of 15 years old for primary amenorrhea. She was obese with no secondary sex sign. Gynecologic examination revealed a normal vagina and clitoris. Rectal Toucher examination revealed no internal genitalia structure. The laboratory data: FSH levels was above normal range, LH and testosterone levels were within normal range. Pelvic Ultrasonography uterus and vaginal structure and testis were not visualized. Cytogenetic and ARgene analysis found a 46, XY karyotype and no pathogenic variants. On laparoscopy, Mullerian structure and Wolffian remnant structure were identified and biopsies were performed. Based on histopathological examination and immunohistochemical markers of the right and left gonad showed the impression of Malignant Mixed Germ Cell-Sex Cord Stromal Tumor. SRY gene examination was positive.Examination of other DSD gene analysis has not been done. Second laparoscopy for gonadectomy and removal of Mullerian and Wolfiian remnant structure were performed. Conclusion:Chromosomal analysis should become the first line testing in primary amenorrhea followed by advanced molecular test. Multidisciplinary managements recommended for DSD cases.Ni Made Indri Dwi SusantiInu MulyantoroDik PuspasariNurin Aisyiyah ListyasariSultana MH FaradzDiponegoro Universityarticleprimary amenorrheagonadal dysgenesisdisorders of sexual developmentgenetic mutationMedicine (General)R5-920ENJournal of Biomedicine and Translational Research, Vol 6, Iss 1, Pp 19-22 (2020)
institution	DOAJ
collection	DOAJ
language	EN
topic	primary amenorrhea gonadal dysgenesis disorders of sexual development genetic mutation Medicine (General) R5-920
spellingShingle	primary amenorrhea gonadal dysgenesis disorders of sexual development genetic mutation Medicine (General) R5-920 Ni Made Indri Dwi Susanti Inu Mulyantoro Dik Puspasari Nurin Aisyiyah Listyasari Sultana MH Faradz Unraveling of Diagnosis Odyssey in A Girl with Primary Amenorrhea: A case report
description	ABSTRACT Background:Primary amenorrhea may result from congenital abnormalities in the development of the gonads, genital tract, or external genitalia or from a disturbance within the hypothalamic-pituitary-ovarian axis. Gonadal dysgenesis is a disorder of sex development in which the diagnosis is based on the histology of gonads and is the main cause of primary amenorrhea. Optimal protocol of management for phenotypic female with 46, XY gonadal dysgenesis involves prophylactic gonadectomy at diagnosis. Case Presentation: The patient was referred to our hospital at the age of 15 years old for primary amenorrhea. She was obese with no secondary sex sign. Gynecologic examination revealed a normal vagina and clitoris. Rectal Toucher examination revealed no internal genitalia structure. The laboratory data: FSH levels was above normal range, LH and testosterone levels were within normal range. Pelvic Ultrasonography uterus and vaginal structure and testis were not visualized. Cytogenetic and ARgene analysis found a 46, XY karyotype and no pathogenic variants. On laparoscopy, Mullerian structure and Wolffian remnant structure were identified and biopsies were performed. Based on histopathological examination and immunohistochemical markers of the right and left gonad showed the impression of Malignant Mixed Germ Cell-Sex Cord Stromal Tumor. SRY gene examination was positive.Examination of other DSD gene analysis has not been done. Second laparoscopy for gonadectomy and removal of Mullerian and Wolfiian remnant structure were performed. Conclusion:Chromosomal analysis should become the first line testing in primary amenorrhea followed by advanced molecular test. Multidisciplinary managements recommended for DSD cases.
format	article
author	Ni Made Indri Dwi Susanti Inu Mulyantoro Dik Puspasari Nurin Aisyiyah Listyasari Sultana MH Faradz
author_facet	Ni Made Indri Dwi Susanti Inu Mulyantoro Dik Puspasari Nurin Aisyiyah Listyasari Sultana MH Faradz
author_sort	Ni Made Indri Dwi Susanti
title	Unraveling of Diagnosis Odyssey in A Girl with Primary Amenorrhea: A case report
title_short	Unraveling of Diagnosis Odyssey in A Girl with Primary Amenorrhea: A case report
title_full	Unraveling of Diagnosis Odyssey in A Girl with Primary Amenorrhea: A case report
title_fullStr	Unraveling of Diagnosis Odyssey in A Girl with Primary Amenorrhea: A case report
title_full_unstemmed	Unraveling of Diagnosis Odyssey in A Girl with Primary Amenorrhea: A case report
title_sort	unraveling of diagnosis odyssey in a girl with primary amenorrhea: a case report
publisher	Diponegoro University
publishDate	2020
url	https://doaj.org/article/aa81b90265564291b19b387c738d5793
work_keys_str_mv	AT nimadeindridwisusanti unravelingofdiagnosisodysseyinagirlwithprimaryamenorrheaacasereport AT inumulyantoro unravelingofdiagnosisodysseyinagirlwithprimaryamenorrheaacasereport AT dikpuspasari unravelingofdiagnosisodysseyinagirlwithprimaryamenorrheaacasereport AT nurinaisyiyahlistyasari unravelingofdiagnosisodysseyinagirlwithprimaryamenorrheaacasereport AT sultanamhfaradz unravelingofdiagnosisodysseyinagirlwithprimaryamenorrheaacasereport
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Unraveling of Diagnosis Odyssey in A Girl with Primary Amenorrhea: A case report

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