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Submitted: 22 December 2016 Modified: 22 December 2016

Herdin Record #: NCR-PSREI-16122211414628

The link between the missing menses and a missing long arm: a case of a variant turner syndrome.


1Judith Anne Pasion Author
2Hazel D. Madlang-awa Co-Author

Related Institutions

Institutions NameRole
Department of Obstetrics and Gynecology - Dr. Jose Fabella Memorial Hospital

Publication Information

Publication Type:
Publication Sub Type:
Case report
Philippine Journal of Reproductive Endocrinology and Infertility
Publication Date:
December 2016
Philippine Society of Reproductive Endocrinology and Infertility, Inc.


Primary amenorrhea in a 20 year old becomes alarming especially when the woman desires to conceive a child. This paper reports a case of a 20 year old nulligravid with a chief complaint of absence of menses since puberty. Timely diagnosis with thorough clinical history, physical examination and appropriate procedures like karyotyping led to the diagnosis of sexual chromosomal anomaly. The initial and repeat transvaginal ultrasound reported ovarian hyperthecosis and infantile uterus, respectively. Karyotyping test revealed 46X with terminal deletion of long arm of Chromosome X with break at band Xq21 while serum follicle stimulating hormone (FSH) revealed an elevated result. Primary amenorrhea along with development of secondary sexual characteristics and abnormal karyotyping test, the patient fulfills the criteria of a rare case of variant Turner syndrome. This case discusses the valuable collaboration between the Obstetrician-Gynecologist, Reproductive Endocrinology, Geneteicist and patient for proper evaluation, diagnosis and management.

Physical Location

LocationCall NumberAvailable FormatAvailability
Philippine Society of Reproductive Medicine 6329209565 Abstract Print Format


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