A Mixed Gonadal Dysgenesis in an 19 Year Old Girl with Ambigous Genitalia: A Case Report

Amanda T. Hardigaloeh; Tri Juli E. Tarigan; Em Yunir; Kanadi Sumapradja; Feranindhya Agiananda; Yulia Ariani; Nanis S. Marzuki; Irfan Wahyudi

A Mixed Gonadal Dysgenesis in an 19 Year Old Girl with Ambigous Genitalia: A Case Report

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1 Citation (Scopus)

Abstract

A 19-year-old girl was referred with delayed puberty and ambiguous genitalia. She had short stature with high blood pressure and Turner’s stigmata with external genitalia Prader Score 4. Ultrasound revealed hypoplastic uterus with no gonad. Follicle stimulating hormone, luteinizing hormone and testosterone level were increased (51.29 mIU/mL, 23.66 mIU/mL and 742 ng/dl). Karyotyping revealed 46 XY with Fluorescence in situ hybridization cytogenetic study based on 300 cells showed mosaic chromosome, monosomy X (17%) and XY (83%). Laparascopic gonadectomy was done and showed that testes were only in the right inguinal canal. Then patient had external genitalia reconstruction and received estrogen replacement therapy.

Original language	English
Pages (from-to)	460-464
Number of pages	5
Journal	Acta medica Indonesiana
Volume	55
Issue number	4
Publication status	Published - 2023

Keywords

ambiguous genitalia
mixed gonadal dysgenesis

Cite this

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title = "A Mixed Gonadal Dysgenesis in an 19 Year Old Girl with Ambigous Genitalia: A Case Report",

abstract = "A 19-year-old girl was referred with delayed puberty and ambiguous genitalia. She had short stature with high blood pressure and Turner{\textquoteright}s stigmata with external genitalia Prader Score 4. Ultrasound revealed hypoplastic uterus with no gonad. Follicle stimulating hormone, luteinizing hormone and testosterone level were increased (51.29 mIU/mL, 23.66 mIU/mL and 742 ng/dl). Karyotyping revealed 46 XY with Fluorescence in situ hybridization cytogenetic study based on 300 cells showed mosaic chromosome, monosomy X (17\%) and XY (83\%). Laparascopic gonadectomy was done and showed that testes were only in the right inguinal canal. Then patient had external genitalia reconstruction and received estrogen replacement therapy.",

keywords = "ambiguous genitalia, mixed gonadal dysgenesis",

author = "Hardigaloeh, \{Amanda T.\} and Tarigan, \{Tri Juli E.\} and Em Yunir and Kanadi Sumapradja and Feranindhya Agiananda and Yulia Ariani and Marzuki, \{Nanis S.\} and Irfan Wahyudi and Lisnawati",

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language = "English",

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pages = "460--464",

journal = "Acta medica Indonesiana",

issn = "0125-9326",

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TY - JOUR

T1 - A Mixed Gonadal Dysgenesis in an 19 Year Old Girl with Ambigous Genitalia

T2 - A Case Report

AU - Hardigaloeh, Amanda T.

AU - Tarigan, Tri Juli E.

AU - Yunir, Em

AU - Sumapradja, Kanadi

AU - Agiananda, Feranindhya

AU - Ariani, Yulia

AU - Marzuki, Nanis S.

AU - Wahyudi, Irfan

AU - Lisnawati, null

PY - 2023

Y1 - 2023

N2 - A 19-year-old girl was referred with delayed puberty and ambiguous genitalia. She had short stature with high blood pressure and Turner’s stigmata with external genitalia Prader Score 4. Ultrasound revealed hypoplastic uterus with no gonad. Follicle stimulating hormone, luteinizing hormone and testosterone level were increased (51.29 mIU/mL, 23.66 mIU/mL and 742 ng/dl). Karyotyping revealed 46 XY with Fluorescence in situ hybridization cytogenetic study based on 300 cells showed mosaic chromosome, monosomy X (17%) and XY (83%). Laparascopic gonadectomy was done and showed that testes were only in the right inguinal canal. Then patient had external genitalia reconstruction and received estrogen replacement therapy.

AB - A 19-year-old girl was referred with delayed puberty and ambiguous genitalia. She had short stature with high blood pressure and Turner’s stigmata with external genitalia Prader Score 4. Ultrasound revealed hypoplastic uterus with no gonad. Follicle stimulating hormone, luteinizing hormone and testosterone level were increased (51.29 mIU/mL, 23.66 mIU/mL and 742 ng/dl). Karyotyping revealed 46 XY with Fluorescence in situ hybridization cytogenetic study based on 300 cells showed mosaic chromosome, monosomy X (17%) and XY (83%). Laparascopic gonadectomy was done and showed that testes were only in the right inguinal canal. Then patient had external genitalia reconstruction and received estrogen replacement therapy.

KW - ambiguous genitalia

KW - mixed gonadal dysgenesis

UR - https://www.scopus.com/pages/publications/85182099737

M3 - Article

C2 - 38213048

AN - SCOPUS:85182099737

SN - 0125-9326

VL - 55

SP - 460

EP - 464

JO - Acta medica Indonesiana

JF - Acta medica Indonesiana

IS - 4

ER -

A Mixed Gonadal Dysgenesis in an 19 Year Old Girl with Ambigous Genitalia: A Case Report

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Keywords

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