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Management challenges of disorders of sex development- Case Series [PDF]

Rwanda Medical Journal, 2022
INTRODUCTION: Disorders of sex development (DSDs) are genetic abnormalities characterized by discordance between phenotypic, gonadal, and genetic sex. They are grouped into two categories based on karyotype: 46, XX DSD and 46, XY DSD. CASES: We reviewed
B. Tuyishimire, H. Irere, F. Rutagarama, A. Ndatinya, O.R. Karangwa, A. Gasana, C. Nsanzabaganwa, L. Mutesa   +7 more
doaj   +4 more sources

Multidisciplinary Management of Disorders of Sex Development in Indonesia, A Prototype in Developing Country [PDF]

Journal of Biomedicine and Translational Research, 2017
Background : Disorder of sex development (DSD) patients require comprehensive management to improve quality of life. A standardized management protocol for patients in Indonesia is not yet available resulting in patients infrequently received a proper ...
Nurin Aisyiyah Listyasari, Achmad Zulfa Juniarto, Sultana MH Faradz   +2 more
doaj   +2 more sources

46,XY ovotesticular disorders of sex development: A therapeutic challenge

Pediatric Reports, 2017
46,XY ovotesticular disorder of sex development is extremely rare and indicates the presence of both testis and ovary in the same patient. Gender assignment in newborns represents a therapeutic challenge.
Maria-Grazia Scarpa, Massimo Di Grazia, Gianluca Tornese   +2 more
doaj   +5 more sources

Disorders/Differences of Sex Development Presenting in the Newborn With 46,XY Karyotype

Frontiers in Pediatrics, 2021
Differences/disorders of sex development (DSD) are a heterogeneous group of congenital conditions, resulting in discordance between an individual's sex chromosomes, gonads, and/or anatomic sex. The management of a newborn with suspected 46,XY DSD remains
Silvano Bertelloni, Nina Tyutyusheva, Margherita Valiani, Franco D'Alberton, Fulvia Baldinotti, Maria Adelaide Caligo, Giampiero I. Baroncelli, Diego G. Peroni   +7 more
doaj   +4 more sources

Rare presentations of Swyer syndrome in a 13.5-year-old female; a case report and literature review [PDF]

BMC Pediatrics
Background Swyer syndrome (SS), or 46, XY pure gonadal dysgenesis, is a rare disorder of sex development. It typically presents with primary amenorrhea and an absence of secondary sexual characteristics.
Alireza Sadeghi, Romina Rezaei, Zahra Razavi, Amir Mohammad Salehi, Arash Dehghan   +4 more
doaj   +2 more sources

Complete androgen insensitivity syndrome in a 15-year-old female with primary amenorrhea and undescended testes: a rare case report [PDF]

Radiology Case Reports
Morris syndrome, also known as Complete Androgen Insensitivity Syndrome (CAIS), is a rare genetic disorder of sex development characterized by a 46, XY karyotype with female external genitalia due to androgen receptor mutations. We present a case of a 15-
Fariha Zerin, MBBS, Tushar Kanti Bhadra, MBBS, Raidah Sadia, MBBS, Zahin Shahriar, MBBS   +3 more
doaj   +2 more sources

Partial Androgen Insensitivity Syndrome and Congenital Adrenal Hyperplasia—A Case Report of the Coexistence of Two Rare Diseases in One Patient [PDF]

Reports
Background and Clinical Significance: In a single phenotypically female patient, we describe the rare co-occurrence of partial androgen insensitivity syndrome (PAIS) and congenital adrenal hyperplasia (CAH). Partial androgen insensitivity syndrome (PAIS)
Mariola Krzyścin, Agnieszka Brodowska, Gabriela Furtak, Dominika Pietrzyk, Katarzyna Zając, Bartosz Oder, Adam Przepiera, Elżbieta Sowińska-Przepiera   +7 more
doaj   +2 more sources

Identification of a Rare Variant in the SRD5A2 Gene in Siblings With 46,XY Disorders of Sexual Development [PDF]

Case Reports in Genetics
The SRD5A2 gene encodes the steroid 5α-reductase-2 isozyme, which converts testosterone to dihydrotestosterone and plays a key role in sexual development and androgen physiology.
Leena Rawal, Deepak Panwar, Ravinder Kumar, Gaurav Sharma, Sumit Jangra, Reena Nakra, Vandana Lal, Vamshi Krishna Thamtam   +7 more
doaj   +2 more sources

A Case Report of Tissue Mosaicism in 45,X0/46,XY: Diagnostic Complexity in a Newborn with Ambiguous Genitalia [PDF]

Reports
Background and Clinical Significance: The 45,X0/46,XY mosaic karyotype is categorized as a disorder of sex development and can lead to atypical sexual development.
Mariola Krzyścin, Agnieszka Brodowska, Dominika Pietrzyk, Katarzyna Zając, Elżbieta Sowińska-Przepiera   +4 more
doaj   +2 more sources

Birth weight in different etiologies of disorders of sex development [PDF]

, 2017
Context: It is well established that boys are heavier than girls at birth. Although the cause of birth weight (BW) difference is unknown, it has been proposed that it could be generated from prenatal androgen action.
Ahmed, S.F., Bertelloni, S., Bryce, J., Claahsen-Van Der Grinten, H.L., Cools, M., Darendeliler, F., Desloovere, A., Guran, T., Hannema, S.E., Hiort, O., Holterhus, P.M., Hughes, I., Jiang, J., Kohler, B., Krone, N., Lisa, L., Niedziela, M., Nordenstrom, A., Poyrazoglu, S., Rodie, M.   +19 more
core   +10 more sources