Swyer syndrome: The gender swayer?

Abstract

46XY complete gonadal dysgenesis (SWYER SYNDROME) is a rare type of Disorder of Sex Development. Herein we report a 15 years-old child, reared as female, presented with complaints of primary amenorrhoea, without short stature or Turner's stigmata. Secondary sexual development was normal. Biochemically, luteinizing hormone (LH) was 23.29 mIU/ml and follicle stimulating hormone (FSH) was 54.94 mIU/ml. Serum estradiol level was 15.33 pg/ml (21-51), and Testosterone was 14.04 ng/dl. USG abdomen revealed a small uterus with thinned endometrium. MRI Abdomen showed hypoplastic uterus with non-visualized B/L ovaries (? Complete/pure gonadal dysgenesis). Patient had withdrawal bleeding with estrogen progesterone challenge test. Karyotype analysis revealed 46XY with no evidence of mosaicism. Based on these results a diagnosis of Swyer Syndrome (complete gonadal dysgenesis: Disorder of Sexual Development) was suspected. Patient was managed with a multidisciplinary approach and various issues were discussed.

“Waking up” the sleeping metaphor of normality in connection to intersex or DSD: a scoping review of medical literature

“…In most cases, they were close-ups of genitals—mainly from infants or children (AbouZeid & Mohammad, 2020 ; Barham et al, 2016 ; Baskin, 2017 ; Deeb et al, 2016 ; Fadil Iturralde et al, 2020 ; Goncalves et al, 2019 ; Heo et al, 2018 ; Jayanthi et al, 2017 ; Jesus et al, 2018 ; Kearsey & Hutson, 2017 ; Marei et al, 2016 ; Matsumoto et al, 2017 ; Morozumi et al, 2018 ; Nasir et al, 2019 ; Ochi et al, 2019 ; Saikia et al, 2019 ; Şimşek et al, 2016 ; Sperling & Meyer, 2017 ; Wagner-Mahler et al, 2019 ), but in a few cases also of adolescents (Chouhan et al, 2017 ; Hunter et al, 2016 ; Tambo et al, 2016 ) and adults (Larios García & Bautista Delgado, 2016 ; Patil et al, 2019 ; Singh et al, 2016 ). Three papers also contained images of breasts (Singh et al, 2016 ) and/or fully body shots (Khare et al, 2017 ; Mirshahvalad et al, 2018 ) of adolescents whose eyes were obscured with a black line. One paper contained images of the genitals of both children and adolescents (Raveenthiran, 2017 ).…”

“…The studies touched on some important DSD-specific themes such as: (delay in, correct, timely etc.) diagnosis (Ameyaw et al, 2019 ; Caputo et al, 2019 ; Fadil Iturralde et al, 2020 ; Mondal et al, 2016 ; Şimşek et al, 2016 ; Teasdale & Morton, 2017 ; Xu et al, 2018 ), medical decision-making (Hernández et al, 2016 ; Khare et al, 2017 ; Teasdale & Morton, 2017 ; Witchel, 2018 ), multi-disciplinary teams (Berberoğlu & Şıklar, 2018 ; Caputo et al, 2019 ; Chowdhury et al, 2018 ; Heo et al, 2018 ; Hernández et al, 2016 ; Kearsey & Hutson, 2017 ; Nasir et al, 2019 ; Özdemir et al, 2019 ; Şimşek et al, 2016 ; Witchel, 2018 ; Wu et al, 2017 ) follow-up care (Berberoğlu & Şıklar, 2018 ; Chouhan et al, 2017 ; Hertweck & Rothstein, 2019 ), genetic screening (Kornman et al, 2018 ; Wu et al, 2017 ), fertility and reproduction (Adrião et al, 2020 ; Greeley et al, 2017 ; Hertweck & Rothstein, 2019 ; Pattamshetty et al, 2020 ; Witchel, 2018 ), the risk for tumor development of gonads (Chen et al, 2018 ; Chouhan et al, 2017 ; Heo et al, 2018 ; Huang et al, 2019 ; Lepais et al, 2016 ; Matsumoto et al, 2017 ; Pan et al, 2019 ; Şimşek et al, 2016 ) and sexuality (Baskin, 2017 ; Mendonca et al, 2016 ; Patil et al, 2019 ).…”

“…There was no direct link between the use of normal/normality and medical interventions insofar some studies recommended early surgeries (Barham et al, 2016 ; Baskin, 2017 ; Deeb et al, 2019 ; Greeley et al, 2017 ; Hernández et al, 2016 ; Huang et al, 2019 ; Jayanthi et al, 2017 ; Khare et al, 2017 ; Larios García & Bautista Delgado, 2016 ; Matsumoto et al, 2017 ; Wagner-Mahler et al, 2019 ; Xu et al, 2018 ) and others suggested to postpone them and were more hesitant/conservative regarding gonadectomy (AbouZeid & Mohammad, 2020 ; Berberoğlu & Şıklar, 2018 ; Chen et al, 2018 ; Morandi et al, 2018 ; Ochi et al, 2019 ; Sperling & Meyer, 2017 ; Witchel, 2018 ). To illustrate this, we have selected a few quotes from the reviewed literature.…”

“…testosterone, estrogen, luteinizing hormone (LH), follicle stimulating hormone (FSH), Anti-Müllerian hormone (AMH)), at times with the indication of a reference range (Adrião et al, 2020;Morandi et al, 2018;Raveendran et al, 2019;Şimşek et al, 2016;Sperling & Meyer, 2017;Teasdale & Morton, 2017;Wu et al, 2017;Xu et al, 2018). A few articles (Heo et al, 2018;Khare et al, 2017;Larios García & Bautista Delgado, 2016;Mirshahvalad et al, 2018;Özdemir et al, 2019;Pranckėnienė et al, 2019) also referred to secondary sex characteristics such as breasts (e.g. normal breast development) and hair (e.g.…”

A laparoscopic management of Swyer syndrome in a woman with pure 46XY gonads and hypoplastic dysgenesis-a rare presentation

“…The external genitalia is that of a females, the upper part of the vagina and tubes are normal or are hypoplastic, and the uterus is usually rudimentary or maybe normal in some cases. 7 The gonads are dysgenetic strips composed of only fibrous tissue; they do not exhibit any hormonal function, gametogenesis. 8 The patients karyotype is 46,XY, but they do not have well defined ovaries or testes.…”