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Case of sisters with complete androgen insensitivity syndrome and discordant Müllerian remnants.
Fertil Steril. 2009 Mar; 91(3):932.e15-8.FS

Abstract

OBJECTIVE

Presentation of complete androgen insensitivity in two members of the same family with differing residual Müllerian tissue.

DESIGN

Case report.

SETTING

Rural hospital setting.

PATIENT(S)

Two siblings with 46,XY karyotype and female phenotype presented at different points in time with primary amenorrhea. Laparoscopy of sister 1 revealed bilateral elongated gonads and remnants of uterine tissue. Laparoscopy of sister 2 demonstrated both gonads, but no uterus was identified.

INTERVENTION(S)

Sister 1: bilateral gonadectomy and hysterectomy. Sister 2: bilateral gonadectomy.

MAIN OUTCOME MEASURE(S)

Gonadectomy for cancer prophylaxis, counseling in affected/unaffected family members.

RESULT(S)

Sister 1: pathology revealed portions of immature testicles and fragments of smooth muscle. Sister 2: pathology reported two testicular and epididymal-like structures with benign Sertoli cell adenomas entirely in testicular parenchyma.

CONCLUSION(S)

This case demonstrates the presentation and laparoscopic photos of complete androgen insensitivity syndrome discovered in two siblings. Both girls are genotypically male, but differ in the presence of vestigial Müllerian tissue. This case demonstrates that siblings with androgen resistance may express varying amounts of Müllerian tissue.

Authors+Show Affiliations

Department of Obstetrics and Gynecology, Division of Reproductive Endocrinology and Infertility, Geisinger Medical Center, Geisinger Health System, Danville, Pennsylvania 17822, USA. jlnichols@geisinger.eduNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

18930210

Citation

Nichols, Jennifer L., et al. "Case of Sisters With Complete Androgen Insensitivity Syndrome and Discordant Müllerian Remnants." Fertility and Sterility, vol. 91, no. 3, 2009, pp. 932.e15-8.
Nichols JL, Bieber EJ, Gell JS. Case of sisters with complete androgen insensitivity syndrome and discordant Müllerian remnants. Fertil Steril. 2009;91(3):932.e15-8.
Nichols, J. L., Bieber, E. J., & Gell, J. S. (2009). Case of sisters with complete androgen insensitivity syndrome and discordant Müllerian remnants. Fertility and Sterility, 91(3), e15-8. https://doi.org/10.1016/j.fertnstert.2008.09.027
Nichols JL, Bieber EJ, Gell JS. Case of Sisters With Complete Androgen Insensitivity Syndrome and Discordant Müllerian Remnants. Fertil Steril. 2009;91(3):932.e15-8. PubMed PMID: 18930210.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Case of sisters with complete androgen insensitivity syndrome and discordant Müllerian remnants. AU - Nichols,Jennifer L, AU - Bieber,Eric J, AU - Gell,Jennifer S, Y1 - 2008/10/18/ PY - 2008/06/11/received PY - 2008/09/05/revised PY - 2008/09/05/accepted PY - 2008/10/22/pubmed PY - 2009/3/20/medline PY - 2008/10/22/entrez SP - 932.e15 EP - 8 JF - Fertility and sterility JO - Fertil Steril VL - 91 IS - 3 N2 - OBJECTIVE: Presentation of complete androgen insensitivity in two members of the same family with differing residual Müllerian tissue. DESIGN: Case report. SETTING: Rural hospital setting. PATIENT(S): Two siblings with 46,XY karyotype and female phenotype presented at different points in time with primary amenorrhea. Laparoscopy of sister 1 revealed bilateral elongated gonads and remnants of uterine tissue. Laparoscopy of sister 2 demonstrated both gonads, but no uterus was identified. INTERVENTION(S): Sister 1: bilateral gonadectomy and hysterectomy. Sister 2: bilateral gonadectomy. MAIN OUTCOME MEASURE(S): Gonadectomy for cancer prophylaxis, counseling in affected/unaffected family members. RESULT(S): Sister 1: pathology revealed portions of immature testicles and fragments of smooth muscle. Sister 2: pathology reported two testicular and epididymal-like structures with benign Sertoli cell adenomas entirely in testicular parenchyma. CONCLUSION(S): This case demonstrates the presentation and laparoscopic photos of complete androgen insensitivity syndrome discovered in two siblings. Both girls are genotypically male, but differ in the presence of vestigial Müllerian tissue. This case demonstrates that siblings with androgen resistance may express varying amounts of Müllerian tissue. SN - 1556-5653 UR - https://www.unboundmedicine.com/medline/citation/18930210/Case_of_sisters_with_complete_androgen_insensitivity_syndrome_and_discordant_M��llerian_remnants_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0015-0282(08)03916-2 DB - PRIME DP - Unbound Medicine ER -