Disorders of Sex Determination

Abdel‐Hamid, Ibrahim A.; Elsobky, Ezzat; Elsaied, Moustafa A.

doi:10.1007/978-3-030-37972-8_18

Cited by 1 publication

(2 citation statements)

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“…The patient has been diagnosed with 46,XX testicular DSD, also referred to as the de la Chapelle syndrome [ 1 ], based on the provided information. This condition is a rare genetic disorder characterized by individuals with a female karyotype (46,XX) who exhibit undescended testes and ambiguous genitalia due to the abnormal development of the gonads and genitalia during fetal development [ 2 ].…”

Section: Case Presentationmentioning

confidence: 99%

“…The de la Chapelle syndrome, also known as 46,XX testicular disorder of sex development (DSD) [ 1 ], is an exceptionally rare genetic disorder that influences sexual development. Within this condition, individuals with a female karyotype (46,XX) experience undescended testes and ambiguous genitalia stemming from irregular gonadal and genitalia development during fetal gestation [ 2 ]. Collectively, DSD constitute a multifaceted and diverse array of conditions that can exert substantial impacts on an individual's physical, psychological, and social well-being.…”

Section: Introductionmentioning

confidence: 99%

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A Case of de la Chapelle Syndrome

Thaker,

Parihar,

Dhande

et al. 2023

Cureus

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A rare disorder of sex development (DSD) linked to a 46,XX karyotype is characterized by male external genitalia, which can range from typical to atypical, often accompanied by testosterone deficiency. A 3-year-old child who appeared phenotypically male was brought to the hospital by his parents due to concerns about ambiguous genitalia. A comprehensive series of pathological tests and radiological imaging studies were conducted to ascertain the underlying cause of his presentation. Karyotyping revealed a 46,XX genotype, while magnetic resonance imaging (MRI) results indicated the presence of both testes and a Müllerian remnant. Consequently, the diagnosis was established as the de la Chapelle syndrome. This case report aims to highlight various imaging findings associated with this syndrome.

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Section: Case Presentationmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%