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Multiorgan system structural malformations associated with Mayer-Rokitansky-Küster-Hauser Syndrome (MRKHS) type 2: avoiding pitfalls in diagnosis, counseling and treatment.
BMJ Case Rep 2018; 2018BC

Abstract

An 18-year-old virginal woman was referred to the reproductive endocrinology clinic with primary amenorrhoea and secondary sexual development in the absence of pelvic pain. Additionally, she had significant congenital sensorineural hearing loss, autism, bipolar disorder and class III obesity. On physical examination, secondary sexual development was confirmed (Tanner 5 breasts and Tanner 4 pubic hair). She refused further pelvic examination following prior attempts by the referring physicians. Serum leutinizing hormone (LH), follicle sitmulating hormone (FSH). prolactin, estradiol and total testosterone values were within normal limits. Karyotype was 46,XX. MRI demonstrated complete uterine agenesis, short vagina, sacral dysgenesis with complete absence of the coccyx and a horseshoe kidney. Diagnosis of Mayer-Rokitansky-Küster-Hauser Syndrome type 2 was established based on clinical, laboratory and MRI findings. The patient and family were counselled regarding the disease process, techniques for vaginal elongation, sexual activity and future reproductive options.

Authors+Show Affiliations

Department of Ob/Gyn, Texas Tech University Health Science Center School of Medicine, Amarillo, Texas, USA.Department of Ob/Gyn, Texas Tech University Health Science Center School of Medicine, Amarillo, Texas, USA.Department of Ob/Gyn, Texas Tech University Health Science Center School of Medicine, Amarillo, Texas, USA.Department of Ob/Gyn, Texas Tech University Health Science Center School of Medicine, Amarillo, Texas, USA.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

30065057

Citation

Ghosh, Niloy, et al. "Multiorgan System Structural Malformations Associated With Mayer-Rokitansky-Küster-Hauser Syndrome (MRKHS) Type 2: Avoiding Pitfalls in Diagnosis, Counseling and Treatment." BMJ Case Reports, vol. 2018, 2018.
Ghosh N, Moon JH, Henderson JA, et al. Multiorgan system structural malformations associated with Mayer-Rokitansky-Küster-Hauser Syndrome (MRKHS) type 2: avoiding pitfalls in diagnosis, counseling and treatment. BMJ Case Rep. 2018;2018.
Ghosh, N., Moon, J. H., Henderson, J. A., & Kauffman, R. P. (2018). Multiorgan system structural malformations associated with Mayer-Rokitansky-Küster-Hauser Syndrome (MRKHS) type 2: avoiding pitfalls in diagnosis, counseling and treatment. BMJ Case Reports, 2018, doi:10.1136/bcr-2018-225977.
Ghosh N, et al. Multiorgan System Structural Malformations Associated With Mayer-Rokitansky-Küster-Hauser Syndrome (MRKHS) Type 2: Avoiding Pitfalls in Diagnosis, Counseling and Treatment. BMJ Case Rep. 2018 Jul 30;2018 PubMed PMID: 30065057.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Multiorgan system structural malformations associated with Mayer-Rokitansky-Küster-Hauser Syndrome (MRKHS) type 2: avoiding pitfalls in diagnosis, counseling and treatment. AU - Ghosh,Niloy, AU - Moon,Jeremiah H, AU - Henderson,Jonathan A, AU - Kauffman,Robert P, Y1 - 2018/07/30/ PY - 2018/8/2/entrez PY - 2018/8/2/pubmed PY - 2018/11/22/medline KW - healthcare improvement and patient safety KW - medical management KW - reproductive medicine JF - BMJ case reports JO - BMJ Case Rep VL - 2018 N2 - An 18-year-old virginal woman was referred to the reproductive endocrinology clinic with primary amenorrhoea and secondary sexual development in the absence of pelvic pain. Additionally, she had significant congenital sensorineural hearing loss, autism, bipolar disorder and class III obesity. On physical examination, secondary sexual development was confirmed (Tanner 5 breasts and Tanner 4 pubic hair). She refused further pelvic examination following prior attempts by the referring physicians. Serum leutinizing hormone (LH), follicle sitmulating hormone (FSH). prolactin, estradiol and total testosterone values were within normal limits. Karyotype was 46,XX. MRI demonstrated complete uterine agenesis, short vagina, sacral dysgenesis with complete absence of the coccyx and a horseshoe kidney. Diagnosis of Mayer-Rokitansky-Küster-Hauser Syndrome type 2 was established based on clinical, laboratory and MRI findings. The patient and family were counselled regarding the disease process, techniques for vaginal elongation, sexual activity and future reproductive options. SN - 1757-790X UR - https://www.unboundmedicine.com/medline/citation/30065057/Multiorgan_system_structural_malformations_associated_with_Mayer-Rokitansky-Küster-Hauser_Syndrome_(MRKHS)_type_2:_avoiding_pitfalls_in_diagnosis,_counseling_and_treatment L2 - http://casereports.bmj.com/cgi/pmidlookup?view=long&pmid=30065057 DB - PRIME DP - Unbound Medicine ER -