Isolated Hypogonadotropic Hypogonadism in a Young Woman with Primary Amenorrhoea

We describe a case of a young woman who presented with delayed secondary sexual development and primary amenorrhoea. She had low levels of oestradiol, follicle-stimulating hormone, and luteinizing hormone with normal levels of other pituitary hormones. Genetic testing revealed a rare diagnosis of au...

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Main Authors: Zalkha Al Kharusi, Nadia Al Mabaihsi, Amani Al Rawahi, Abeer Al Hadhrami, Maisa Al Kiyumi, Almundher Al-Maawali, Abdulaziz Al Mahrezi
Format: Article
Language:English
Published: Oman Medical Specialty Board 2024-11-01
Series:Oman Medical Journal
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Online Access:https://omjournal.org/articleDetails.aspx?coType=1&aId=3870
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author Zalkha Al Kharusi
Nadia Al Mabaihsi
Amani Al Rawahi
Abeer Al Hadhrami
Maisa Al Kiyumi
Almundher Al-Maawali
Abdulaziz Al Mahrezi
author_facet Zalkha Al Kharusi
Nadia Al Mabaihsi
Amani Al Rawahi
Abeer Al Hadhrami
Maisa Al Kiyumi
Almundher Al-Maawali
Abdulaziz Al Mahrezi
author_sort Zalkha Al Kharusi
collection DOAJ
description We describe a case of a young woman who presented with delayed secondary sexual development and primary amenorrhoea. She had low levels of oestradiol, follicle-stimulating hormone, and luteinizing hormone with normal levels of other pituitary hormones. Genetic testing revealed a rare diagnosis of autosomal recessive hypogonadotropic hypogonadism 8. She was treated with hormone therapy to promote the growth of the uterus and secondary sexual characteristics. Combined contraceptive pills were initiated. A pelvis ultrasound taken after six months revealed a growing uterus.
format Article
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institution DOAJ
issn 1999-768X
2070-5204
language English
publishDate 2024-11-01
publisher Oman Medical Specialty Board
record_format Article
series Oman Medical Journal
spelling doaj-art-277d8e5a44bf419093adcdff68fa21902025-08-20T03:08:17ZengOman Medical Specialty BoardOman Medical Journal1999-768X2070-52042024-11-01e703e70310.5001/omj.2024.39Isolated Hypogonadotropic Hypogonadism in a Young Woman with Primary AmenorrhoeaZalkha Al Kharusi0Nadia Al Mabaihsi1Amani Al Rawahi2Abeer Al Hadhrami3Maisa Al Kiyumi4Almundher Al-Maawali5Abdulaziz Al Mahrezi6Department of Primary Healthcare, Directorate General of Primary Healthcare, Ministry of Health, Muscat, OmanDepartment of Primary Healthcare, Directorate General of Primary Healthcare, Ministry of Health, Muscat, OmanDepartment of Emergency and Outpatient Care, Armed Forces Medical Services, Muscat, OmanDepartment of Primary Healthcare, Directorate General of Primary Healthcare, Ministry of Health, Muscat, OmanDepartment of Family Medicine and Public Health, Sultan Qaboos University Hospital, Muscat, OmanDepartment of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, OmanDepartment of Family Medicine and Public Health, Sultan Qaboos University Hospital, Muscat, OmanWe describe a case of a young woman who presented with delayed secondary sexual development and primary amenorrhoea. She had low levels of oestradiol, follicle-stimulating hormone, and luteinizing hormone with normal levels of other pituitary hormones. Genetic testing revealed a rare diagnosis of autosomal recessive hypogonadotropic hypogonadism 8. She was treated with hormone therapy to promote the growth of the uterus and secondary sexual characteristics. Combined contraceptive pills were initiated. A pelvis ultrasound taken after six months revealed a growing uterus.https://omjournal.org/articleDetails.aspx?coType=1&aId=3870hypogonadotropic hypogonadismreceptorskisspeptinamenorrheaoman
spellingShingle Zalkha Al Kharusi
Nadia Al Mabaihsi
Amani Al Rawahi
Abeer Al Hadhrami
Maisa Al Kiyumi
Almundher Al-Maawali
Abdulaziz Al Mahrezi
Isolated Hypogonadotropic Hypogonadism in a Young Woman with Primary Amenorrhoea
Oman Medical Journal
hypogonadotropic hypogonadism
receptors
kisspeptin
amenorrhea
oman
title Isolated Hypogonadotropic Hypogonadism in a Young Woman with Primary Amenorrhoea
title_full Isolated Hypogonadotropic Hypogonadism in a Young Woman with Primary Amenorrhoea
title_fullStr Isolated Hypogonadotropic Hypogonadism in a Young Woman with Primary Amenorrhoea
title_full_unstemmed Isolated Hypogonadotropic Hypogonadism in a Young Woman with Primary Amenorrhoea
title_short Isolated Hypogonadotropic Hypogonadism in a Young Woman with Primary Amenorrhoea
title_sort isolated hypogonadotropic hypogonadism in a young woman with primary amenorrhoea
topic hypogonadotropic hypogonadism
receptors
kisspeptin
amenorrhea
oman
url https://omjournal.org/articleDetails.aspx?coType=1&aId=3870
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