A rare case report of 46XY mixed gonadal dysgenesis
A 16-year-old person, reared as female presented with complaints of genital ambiguity and primary amenorrhoea along with lack of secondary sexual characters, but without short stature and Turner′s stigmata. She was taking steroids after being misdiagnosed as congenital adrenal hyperplasia (CAH). Kar...
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doaj-4d3dca9beb934d8ea0ea93b50db100b82020-11-24T23:39:34ZengWolters Kluwer Medknow PublicationsIndian Journal of Endocrinology and Metabolism2230-82102230-95002013-01-0117726827010.4103/2230-8210.119601A rare case report of 46XY mixed gonadal dysgenesisRakesh AroraSaumik DattaAnubhav ThukralPartha ChakrabortySujoy GhoshSatinath MukhopadhyaySubhankar ChowdhuryA 16-year-old person, reared as female presented with complaints of genital ambiguity and primary amenorrhoea along with lack of secondary sexual characters, but without short stature and Turner′s stigmata. She was taking steroids after being misdiagnosed as congenital adrenal hyperplasia (CAH). Karyotype analysis revealed 46XY karyotype. There was no evidence of hypocortisolemia (cortisol 9.08 μg/dl, adrenocorticotropic hormone [ACTH] 82.5 pg/ml) or elevated level of 17-OH-progesterone (0.16 ng/ml). Pooled luteinizing hormone (LH) was 11.79 mIU/ml and follicle-stimulating hormone (FSH) was 66.37 mIU/ml. Serum estradiol level was 25 pg/ml (21-251). Basal and 72 h post beta-human chorionic gonadotropin (hCG) levels of androstenedione and testosterone levels were done (basal testosterone of 652 ng/dl and basal androstenedione of 1.17 ng/ml; 72 h post hCG testosterone of 896 ng/dl and androstenedione of 1.34 ng/ml). Magnetic resonance imaging (MRI) pelvis (with ultrasonogrphy [USG] correlation) revealed uterus didelphys with obstructed right moiety and bilateral ovarian-like structures. Right sided gonads and adjacent tubal structures were visualized laparoscopically and removed. Left sided gonads were not visualized and Mullerian remnants were adhered to sigmoid colon. Histopathological examination revealed presence of testicular tissue showing atrophic seminiferous tubules with hyperplasia of Leydig cells. No ovarian tissue was seen. Based on these results a diagnosis of 46XY mixed gonadal dysgenesis (MGD) was made, which is rare and is difficult to distinguish from 46XY ovotesticular disorder of sexual differentiation (OT-DSD). The patient was managed with a multidisciplinary approach and fertility issues discussed with the patient′s caregivers.http://www.ijem.in/article.asp?issn=2230-8210;year=2013;volume=17;issue=7;spage=268;epage=270;aulast=Arora46XYdisorders of sexual differentiationmixed gonadal dysgenesis |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Rakesh Arora Saumik Datta Anubhav Thukral Partha Chakraborty Sujoy Ghosh Satinath Mukhopadhyay Subhankar Chowdhury |
spellingShingle |
Rakesh Arora Saumik Datta Anubhav Thukral Partha Chakraborty Sujoy Ghosh Satinath Mukhopadhyay Subhankar Chowdhury A rare case report of 46XY mixed gonadal dysgenesis Indian Journal of Endocrinology and Metabolism 46XY disorders of sexual differentiation mixed gonadal dysgenesis |
author_facet |
Rakesh Arora Saumik Datta Anubhav Thukral Partha Chakraborty Sujoy Ghosh Satinath Mukhopadhyay Subhankar Chowdhury |
author_sort |
Rakesh Arora |
title |
A rare case report of 46XY mixed gonadal dysgenesis |
title_short |
A rare case report of 46XY mixed gonadal dysgenesis |
title_full |
A rare case report of 46XY mixed gonadal dysgenesis |
title_fullStr |
A rare case report of 46XY mixed gonadal dysgenesis |
title_full_unstemmed |
A rare case report of 46XY mixed gonadal dysgenesis |
title_sort |
rare case report of 46xy mixed gonadal dysgenesis |
publisher |
Wolters Kluwer Medknow Publications |
series |
Indian Journal of Endocrinology and Metabolism |
issn |
2230-8210 2230-9500 |
publishDate |
2013-01-01 |
description |
A 16-year-old person, reared as female presented with complaints of genital ambiguity and primary amenorrhoea along with lack of secondary sexual characters, but without short stature and Turner′s stigmata. She was taking steroids after being misdiagnosed as congenital adrenal hyperplasia (CAH). Karyotype analysis revealed 46XY karyotype. There was no evidence of hypocortisolemia (cortisol 9.08 μg/dl, adrenocorticotropic hormone [ACTH] 82.5 pg/ml) or elevated level of 17-OH-progesterone (0.16 ng/ml). Pooled luteinizing hormone (LH) was 11.79 mIU/ml and follicle-stimulating hormone (FSH) was 66.37 mIU/ml. Serum estradiol level was 25 pg/ml (21-251). Basal and 72 h post beta-human chorionic gonadotropin (hCG) levels of androstenedione and testosterone levels were done (basal testosterone of 652 ng/dl and basal androstenedione of 1.17 ng/ml; 72 h post hCG testosterone of 896 ng/dl and androstenedione of 1.34 ng/ml). Magnetic resonance imaging (MRI) pelvis (with ultrasonogrphy [USG] correlation) revealed uterus didelphys with obstructed right moiety and bilateral ovarian-like structures. Right sided gonads and adjacent tubal structures were visualized laparoscopically and removed. Left sided gonads were not visualized and Mullerian remnants were adhered to sigmoid colon. Histopathological examination revealed presence of testicular tissue showing atrophic seminiferous tubules with hyperplasia of Leydig cells. No ovarian tissue was seen. Based on these results a diagnosis of 46XY mixed gonadal dysgenesis (MGD) was made, which is rare and is difficult to distinguish from 46XY ovotesticular disorder of sexual differentiation (OT-DSD). The patient was managed with a multidisciplinary approach and fertility issues discussed with the patient′s caregivers. |
topic |
46XY disorders of sexual differentiation mixed gonadal dysgenesis |
url |
http://www.ijem.in/article.asp?issn=2230-8210;year=2013;volume=17;issue=7;spage=268;epage=270;aulast=Arora |
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