Embryonic Testicular Regression Syndrome Presenting as Primary Amenorrhea: A Case Report and Review of Disorders of Sexual Development

Hunter, Janel D; Pierce, Stephanie L.; Çalıkoğlu, Ali S.; Howell, Jennifer O.

doi:10.1016/j.jpag.2016.03.006

Cited by 13 publications

(11 citation statements)

References 4 publications

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“…A total of 29 records (38.7%) included medical photographs of the patient’s body or body parts. 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.…”

Section: Resultsmentioning

confidence: 99%

“…normal hair growth, normal pubic hair development, normal facial and axillary hair). Given that these secondary sex features mark adult maturation, also pubertal processes were regularly cited in the literature (Fabbri et al, 2016 ; Greeley et al, 2017 ; Heo et al, 2018 ; Hernández et al, 2016 ; Hertweck & Rothstein, 2019 ; Huang et al, 2019 ; Hunter et al, 2016 ; Kearsey & Hutson, 2017 ; Mirshahvalad et al, 2018 ; Morandi et al, 2018 ; Özdemir et al, 2019 ; Pranckėnienė et al, 2019 ; Schteingart et al, 2019 ). Examples include: normal pubertal development, normal puberty, normal growth, normal menstruation, abnormal virilization, normally masculinized males, sexually abnormal, normal fertility, reproductive abnormalities, normal fertility potential) (see Fig.…”

Section: Resultsmentioning

confidence: 99%

“…After accepting the diagnosis, he developed symptoms of severe depression (Özdemir, 2019 , p. 4) The genetic findings were explained to the patient [a 16-year-old Hispanic female adolescent], who expressed female gender identity and frustration with her lack of development of secondary sexual characteristics. Laparoscopy with gonadectomy was recommended (Hunter 2016 , p. e61) IV.c. Patient-centered approach A previously healthy 13-yr-old male adolescent was referred to the pediatric endocrinology outpatient clinic due to progressive bilateral gynecomastia.…”

Section: Resultsmentioning

confidence: 99%

See 2 more Smart Citations

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

Clercq

Starke

Rost

2022

HPLS

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The aim of the study is to encourage a critical debate on the use of normality in the medical literature on DSD or intersex. For this purpose, a scoping review was conducted to identify and map the various ways in which “normal” is used in the medical literature on DSD between 2016 and 2020. We identified 75 studies, many of which were case studies highlighting rare cases of DSD, others, mainly retrospective observational studies, focused on improving diagnosis or treatment. The most common use of the adjective normal was in association with phenotypic sex. Overall, appearance was the most commonly cited criteria to evaluate the normality of sex organs. More than 1/3 of the studies included also medical photographs of sex organs. This persistent use of normality in reference to phenotypic sex is worrisome given the long-term medicalization of intersex bodies in the name of a “normal” appearance or leading a “normal” life. Healthcare professionals should be more careful about the ethical implications of using photographs in publications given that many intersex persons describe their experience with medical photography as dehumanizing.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

See 1 more Smart Citation

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

Clercq

Starke

Rost

2022

HPLS

View full text Add to dashboard Cite

show abstract

“…In some cases, such as testicular regression syndrome, testicular tissue is lost antenatally or soon after birth, resulting in complete infertility (48,49). At this point, there are no clear options to salvage reproductive potential for individuals with this condition and other disorders such as complete gonadal dysgenesis.…”

Section: Impaired Fertility Related To Underlying Medical Conditionsmentioning

confidence: 99%

Fertility counseling and preservation: considerations for the pediatric endocrinologist

Saraf

Nahata

2017

Transl. Pediatr

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Infertility is a distressing consequence of numerous pediatric medical conditions and treatments.The field of pediatric fertility preservation has expanded rapidly over the past decade, and clinical guidelines emphasize the importance of discussing infertility risk and fertility preservation options with patients and families in a timely manner. Understanding the various mechanisms and presentations of fertility issues across diagnoses is imperative to provide counseling to patients and families, and identify individuals who may benefit from fertility preservation. The goals of this manuscript are to outline current fertility preservation options in pediatrics, review populations at-risk for infertility that are seen in pediatric endocrinology, and discuss other important issues related to fertility preservation including ethical considerations.

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“…Moreover, SRY and some SOX genes participate in carcinogenesis. Some diseases associated with SRY include 46, Xx / 46, XY Sex Reversal 1 (Zenteno-Ruiz et al, 2001), campomelic dysplasia (CD) (Foster et al, 1994), gonadal dysgenesis (Swyer syndrome) (Hunter et al, 2016); testicular regression syndrome (TRS) (Hunter et al, 2016), Turner's syndrome (Oliveira et al, 2009), infertility and azoospermia (Hamada et al, 1807), testicular (Kido and Lau, 2015) and prostate cancers (Ely et al, 2010), and brain disorders (Wu et al, 2009). SRY expression and function in the human brain have been examined in several studies (Rosenfeld, 2017, Wu et al, 2009, Kido et al, 2017.…”

Section: Introductionmentioning

confidence: 99%

Y Chromosome Genes May Play Roles in Directed Differentiation of Human Embryonic Stem Cells.

Khani

Dehkordi

Mollamohammadi

et al. 2021

Preprint

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The human Y chromosome harbors genes that are mainly involved in the growth, development, sexual dimorphism, and spermatogenesis process. Despite many studies, the function of the male-specific region of the Y chromosome (MSY) awaits further clarification, and a cell-based approach can help in this regard. In this study, we have developed four stable transgenic male embryonic stem cell (ESCs) lines that can overexpress male-specific genes HSFY1, RBMY1A1, RPS4Y1, and SRY. As a proof of principle, we differentiated one of these cell lines (RPS4Y1 over-expressing ESCs) to the neural stem cell (rosette structure) and characterized them based on the expression level of lineage markers. RPS4Y1 expression in the Doxycycline-treated group was significantly higher than control groups in transcription and protein levels. Furthermore, we found Doxycycline-treated group had a higher differentiation efficiency than the untreated control groups. Our results suggest that the RPS4Y1 gene may play a critical role in neurogenesis. Also, the generated transgenic ESC lines can be widely employed in basic and preclinical studies, such as sexual dimorphism of neural and cardiac functions, the development of cancerous and non-cancerous disease models, and drug screening.

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Embryonic Testicular Regression Syndrome Presenting as Primary Amenorrhea: A Case Report and Review of Disorders of Sexual Development

Cited by 13 publications

References 4 publications

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

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

Fertility counseling and preservation: considerations for the pediatric endocrinologist

Y Chromosome Genes May Play Roles in Directed Differentiation of Human Embryonic Stem Cells.

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