Does MRI add to ultrasound in the assessment of disorders of sex development?

Mansour, Soad; Hamed, Soha Talaat; Adel, Lamia; Kamal, Rasha; Ahmed, Dina

doi:10.1016/j.ejrad.2011.12.036

Cited by 31 publications

(13 citation statements)

References 17 publications

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“…Moreover, ovotestes and dysgenetic gonads may be misdiagnosed as ovaries or testes, and a structure diagnosed as an ovary may also turn out to be a uterine tube or an epididymis (10). Finally, US may fail to identify the uterus in children with DSD even under appropriate technical conditions (13). Therefore, the use of pelvic US alone is insufficient in reaching syndromic and etiologic diagnoses; instead, pelvic US must be complemented by hormone, histopathological, and genetic tests.…”

Section: Discussionmentioning

confidence: 96%

Parents’ experiences of having a baby with ambiguous genitalia

Oliveira

Paiva-e-Silva²,

Guerra³

et al. 2015

Journal of Pediatric Endocrinology and Metabolism

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Health professionals must be aware of the impact on parents of the birth of children with ambiguous genitalia. This study aimed to analyze the experiences and perceptions of such parents. Parents of 30 children who were evaluated in a reference center for disorders of sex development (DSD) were interviewed. The questionnaire covered the prenatal period, the moment they were told about the disorder, initial management by health professionals, and problems they experienced. Only two cases were detected during pregnancy. The news was usually given to the mother alone by pediatricians. Most parents kept it secret and avoided exposing the baby to the prejudice of others. Parents of children who were referred without sex assignment usually held a personal belief of their child's sex. Previous assignment was based on clinical examination and/or karyotype. Spreading knowledge about DSD could increase awareness of this issue, thus reducing parents' shock and societal stigma. Training of neonatal care teams is required to avoid assignment before evaluation.

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Section: Discussionmentioning

confidence: 96%

Parents’ experiences of having a baby with ambiguous genitalia

Oliveira

Paiva-e-Silva²,

Guerra³

et al. 2015

Journal of Pediatric Endocrinology and Metabolism

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“…Theoretically, it might therefore be possible that the ovaries were missed. Ultrasound and MRI only detect 90% of the gonads and 74% of the ovaries in patients with disorders of sexual development, respectively [10,11]. However, since we performed both examinations, the possibility that we mistakenly missed the ovaries seems to be low in our patient.…”

Section: Discussionmentioning

confidence: 77%

Expanding the CHARGE Geno-Phenotype: A Girl with Novel <b><i>CHD7</i></b> Deletion, Hypogonadotropic Hypogonadism, and Agenesis of Uterus and Ovaries

et al. 2016

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Background: CHARGE syndrome is a variable entity. Clinical diagnosis is based on the Blake-Verloes criteria and can be confirmed by identifying a mutation or deletion in the CHD7 gene. Hypoplasia of the male genitalia and lack or incomplete secondary sexual development in both sexes is a common feature, and is most often attributable to hypogonadotropic hypogonadism which is described in >80% of the CHARGE patients. Other genital anomalies in CHARGE patients are rare. Methods and Results: We describe the case of a girl with a novel heterozygous deletion in exon 15 of the CHD7 gene and combined agenesis of uterus and ovaries, besides gonadotropin deficiency, thus expanding the geno-phenotype of CHARGE syndrome. Conclusion: In case of persistent primary amenorrhea, despite estrogen replacement, this unusual combination should be considered in girls with CHARGE syndrome.

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“…Ultrasound is a noninvasive, cheap procedure that should be used as initial screening for assessment of developmental sexual disorders, especially when different approaches (transabdominal, endoluminal, and transperineal) are used [ 7 ]. MRI examination should be reserved for cases in which DSD is suspected but ultrasound failed to identify the gonads, or when proper differentiation between clitoral hypertrophy and micropenis is required for proper precorrective surgery assessment [ 7 ].…”

Section: Discussionmentioning

confidence: 99%

A Case of True Hermaphroditism Presenting as a Testicular Tumour

Ceci

Calleja

Said

et al. 2015

Case Reports in Urology

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True hermaphroditism represents only 5% cases of all of disorders of sexual differentiation (DSD) and usually present in early childhood with ambiguous genitalia. Occasionally, cases might present later on in adolescence with problems of sexual maturation. Our case report presents a true hermaphrodite with normal male phenotype that presented as a left testicular mass, two years after being diagnosed with Sertoli cell only syndrome in the contralateral testis. Histological examination of the left testis showed ovarian, fallopian tube, myometrial, endometrial, and epididymal tissue. This combination of findings is found in approximately one-third of true hermaphrodites, but it is very rare to present clinically as an inguinoscrotal mass.

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Does MRI add to ultrasound in the assessment of disorders of sex development?

Cited by 31 publications

References 17 publications

Parents’ experiences of having a baby with ambiguous genitalia

Parents’ experiences of having a baby with ambiguous genitalia

Expanding the CHARGE Geno-Phenotype: A Girl with Novel <b><i>CHD7</i></b> Deletion, Hypogonadotropic Hypogonadism, and Agenesis of Uterus and Ovaries

A Case of True Hermaphroditism Presenting as a Testicular Tumour

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