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Testicular feminization: complete androgen insensitivity syndrome. Discussions based on a case report.
Rom J Morphol Embryol. 2014; 55(1):177-81.RJ

Abstract

INTRODUCTION AND OBJECTIVES

Testicular feminization is the syndrome when a male, genetically XY, because of various abnormalities of the X chromosome, is resistant to the actions of the androgen hormones, which in turn stops the forming of the male genitalia and gives a female phenotype. The androgen insensitivity syndrome occurs in one out of 20,000 births and can be incomplete (various sexual ambiguities) or complete (the person appears to be a woman). The aim of this paper is to present the diagnosis and treatment of a case of testicular feminization.

PATIENT AND METHODS

A 22-year-old patient is admitted at Gynecology for primary amenorrhea. The clinical examination shows a female phenotype: the breasts are normally developed, but there is no hair in the groins and axillary areas, the labia are small and hypoplastic, the urinary meatus is normally inserted, and the vulva is unpigmented. The gynecological exam reveals that the hymen is present, the vagina has 1.5 cm in length, while the uterus is absent. At Endocrinology, the levels of gonadotropins were measured and found normal (FSH 3.18 mU/mL, LH 15 mU/mL), the progesterone was 5.79 nmol/L, estradiol was 82.39 pmol/L and the testosterone was 4.27 nmol/L. The karyotype was mapped in order to differentiate the androgen insensitivity syndrome from other genetic abnormalities, like the Klinefelter syndrome (46XXY), Turner syndrome (45XO), mixed gonadal dyssynergia (45XO/46XY) or tetragametic chimerism (46XX/46XY). These tests confirmed the suspected diagnosis - testicular feminization (46XY). The pelvic CT scan revealed the lack of uterus and ovaries, hypoplastic vagina, and intra-abdominal prepsoic testes. The testes were removed in order to avoid the malignant risk. We performed laparoscopic bilateral orchiectomy.

RESULTS

Surgically, the patient had a simple evolution, being discharged in the second day postoperatory, and estrogen therapy was started from that moment on. Mentally, the patient kept thinking she was a woman, so the decision of telling her the truth was left to the parents.

CONCLUSIONS

Testicular feminization is a rare disease that must be diagnosed and treated through close work between gynecologists, endocrinologists, geneticians, urologists, and psychiatrists. Bilateral laparoscopic orchiectomy is the best procedure to remove the intra-abdominal testes, in order to avoid their malignant transformation.

Authors+Show Affiliations

Center of Urologic Surgery, Dialysis and Renal Transplantation, "Fundeni" Clinical Institute, Bucharest, Romania; cgingu@gmail.com.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

24715185

Citation

Gîngu, Constantin, et al. "Testicular Feminization: Complete Androgen Insensitivity Syndrome. Discussions Based On a Case Report." Romanian Journal of Morphology and Embryology = Revue Roumaine De Morphologie Et Embryologie, vol. 55, no. 1, 2014, pp. 177-81.
Gîngu C, Dick A, Pătrăşcoiu S, et al. Testicular feminization: complete androgen insensitivity syndrome. Discussions based on a case report. Rom J Morphol Embryol. 2014;55(1):177-81.
Gîngu, C., Dick, A., Pătrăşcoiu, S., Domnişor, L., Mihai, M., Hârza, M., & Sinescu, I. (2014). Testicular feminization: complete androgen insensitivity syndrome. Discussions based on a case report. Romanian Journal of Morphology and Embryology = Revue Roumaine De Morphologie Et Embryologie, 55(1), 177-81.
Gîngu C, et al. Testicular Feminization: Complete Androgen Insensitivity Syndrome. Discussions Based On a Case Report. Rom J Morphol Embryol. 2014;55(1):177-81. PubMed PMID: 24715185.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Testicular feminization: complete androgen insensitivity syndrome. Discussions based on a case report. AU - Gîngu,Constantin, AU - Dick,Alexandru, AU - Pătrăşcoiu,Sorin, AU - Domnişor,Liliana, AU - Mihai,Mihaela, AU - Hârza,Mihai, AU - Sinescu,Ioanel, PY - 2014/4/10/entrez PY - 2014/4/10/pubmed PY - 2015/4/7/medline SP - 177 EP - 81 JF - Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie JO - Rom J Morphol Embryol VL - 55 IS - 1 N2 - INTRODUCTION AND OBJECTIVES: Testicular feminization is the syndrome when a male, genetically XY, because of various abnormalities of the X chromosome, is resistant to the actions of the androgen hormones, which in turn stops the forming of the male genitalia and gives a female phenotype. The androgen insensitivity syndrome occurs in one out of 20,000 births and can be incomplete (various sexual ambiguities) or complete (the person appears to be a woman). The aim of this paper is to present the diagnosis and treatment of a case of testicular feminization. PATIENT AND METHODS: A 22-year-old patient is admitted at Gynecology for primary amenorrhea. The clinical examination shows a female phenotype: the breasts are normally developed, but there is no hair in the groins and axillary areas, the labia are small and hypoplastic, the urinary meatus is normally inserted, and the vulva is unpigmented. The gynecological exam reveals that the hymen is present, the vagina has 1.5 cm in length, while the uterus is absent. At Endocrinology, the levels of gonadotropins were measured and found normal (FSH 3.18 mU/mL, LH 15 mU/mL), the progesterone was 5.79 nmol/L, estradiol was 82.39 pmol/L and the testosterone was 4.27 nmol/L. The karyotype was mapped in order to differentiate the androgen insensitivity syndrome from other genetic abnormalities, like the Klinefelter syndrome (46XXY), Turner syndrome (45XO), mixed gonadal dyssynergia (45XO/46XY) or tetragametic chimerism (46XX/46XY). These tests confirmed the suspected diagnosis - testicular feminization (46XY). The pelvic CT scan revealed the lack of uterus and ovaries, hypoplastic vagina, and intra-abdominal prepsoic testes. The testes were removed in order to avoid the malignant risk. We performed laparoscopic bilateral orchiectomy. RESULTS: Surgically, the patient had a simple evolution, being discharged in the second day postoperatory, and estrogen therapy was started from that moment on. Mentally, the patient kept thinking she was a woman, so the decision of telling her the truth was left to the parents. CONCLUSIONS: Testicular feminization is a rare disease that must be diagnosed and treated through close work between gynecologists, endocrinologists, geneticians, urologists, and psychiatrists. Bilateral laparoscopic orchiectomy is the best procedure to remove the intra-abdominal testes, in order to avoid their malignant transformation. SN - 2066-8279 UR - https://www.unboundmedicine.com/medline/citation/24715185/Testicular_feminization:_complete_androgen_insensitivity_syndrome__Discussions_based_on_a_case_report_ L2 - http://www.rjme.ro/RJME/resources/files/550114177181.pdf DB - PRIME DP - Unbound Medicine ER -