Sonographic Prenatal Diagnosis of Ambiguous Genitalia

Sivan, Eyal; S, Koch; Reece, E. Albert

doi:10.1159/000264250

Cited by 17 publications

(4 citation statements)

References 6 publications

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“…A clue to the prenatal diagnosis of CAH is usually the presence of ambiguous genitalia that may be present by the second trimester. The most often presentation is of an enlarged clitoris, but more complex abnormalities can be seen (26).…”

Section: Ultrasonographymentioning

confidence: 99%

The role of imaging in congenital adrenal hyperplasia

Teixeira

Elias²,

Andrade

et al. 2014

Arq Bras Endocrinol Metab

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Congenital adrenal hyperplasia (CAH) is an autossomic recessive disorder caused by impaired steroidogenesis. Patients with CAH may present adrenal insufficiency with or without salt-wasting, as well as various degrees of virilization and fertility impairment, carrying a high incidence of testicular adrenal rest tumors and increased incidence of adrenal tumors. The diagnosis of CAH is made based on the adrenocortical profile hormonal evaluation and genotyping, in selected cases. Follow-up is mainly based on hormonal and clinical evaluation. Utility of imaging in this clinical setting may be helpful for the diagnosis, management, and follow-up of the patients, although recommendations according to most guidelines are weak when present. Thus, the authors aimed to conduct a narrative synthesis of how imaging can help in the management of patients with CAH, especially focused on genitography, ultrasonography, computed tomography, and magnetic resonance imaging. Arq Bras Endocrinol Metab. 2014;58(7):701-8 Keywords Adrenal hyperplasia, congenital; magnetic resonance imaging; computed tomography; ultrasonography; diagnostic imaging RESUMO Hiperplasia congênita de suprarrenal (CAH) é uma doença autossômica recessiva causada por deficiências enzimáticas na esteroidogênese. Clinicamente, os pacientes com CAH podem apresentar insuficiência adrenal com ou sem perda de sal, vários graus de virilização e diminuição na fertilidade, alta incidência de restos adrenais testiculares e de tumores adrenais. O diagnóstico de CAH é feito baseado nos resultados da avaliação hormonal e genotípica, em casos selecionados. O seguimento dos pacientes é principalmente feito com avaliação clínica e hormonal. Métodos de diagnóstico por imagem podem ser muito úteis não só no diagnóstico como no manejo e seguimento dos pacientes com CAH. Porém, as recomendações, de acordo com a maioria dos consensos, quando existem, são escassas. Nesse contexto, com base em uma revisão sistemática, o objetivo deste artigo foi sintetizar a literatura em relação a como os métodos de diagnóstico por imagem podem ser úteis no manejo dos pacientes com CAH, com foco em genitografia, ultrassonografia, tomografia computadorizada e ressonância magnética.Arq Bras Endocrinol Metab. 2014;58(7):701-8 Descritores

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Section: Ultrasonographymentioning

confidence: 99%

The role of imaging in congenital adrenal hyperplasia

Teixeira

Elias²,

Andrade

et al. 2014

Arq Bras Endocrinol Metab

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“…Accurate diagnosis of fetal gender is currently possible in almost 100% of cases using modern ultrasound equipment1–4. Examination of the fetal perineum is part of the sonographic examination of the fetus not only to satisfy parental curiosity but also because the genitalia can develop abnormally5, 6. When isolated, accurate prenatal evaluation of ambiguous genitalia is critical for parental counseling and perinatal management7.…”

Section: Introductionmentioning

confidence: 99%

What Determines the Rate of Excited‐State Intramolecular Electron‐Transfer Reaction of 4‐(N,N′‐dimethylamino)benzonitrile in Room Temperature Ionic Liquids? A Study in [bmim][PF₆]

Santhosh

Samanta

2012

ChemPhysChem

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The kinetics of excited-state intramolecular electron-transfer reaction and dynamics of solvation of the intramolecular charge transfer (ICT) state of 4-(N,N'-dimethylamino)benzonitrile (DMABN) was studied in 1-butyl-3-methylimidazloium hexafluorophosphate, [bmim][PF(6)], by monitoring the dual fluorescence of the system. The picosecond time-resolved emission spectra (TRES) of DMABN exhibit decay of the locally excited (LE) emission intensity and shift of the ICT emission peak position with time, thus capturing the kinetics of evolution of the ICT state from the LE state and solvent relaxation of the ICT state. These results show that the LE→ICT transformation rate is determined not by the slow dynamics of solvation in ionic liquid, but is controlled mainly by the rate of structural reorganization of the molecule, which accompanies the electron-transfer process in this polar viscous medium. Even though both solvent reorganization around photo-excited DMABN and structural rearrangement of the molecule are dependent on the viscosity of the medium, it is the latter process that contributes to the viscosity dependence of the LE→ICT transformation.

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“…À partir du deuxième trimestre, un examen complet des organes génitaux externes (OGE) est possible et la sensibilité du diagnostic de sexe foetal approche les 100 % [2][3][4][5]. Outre la satisfaction de la curiosité des futurs parents, l'examen échographique des OGE, conduisant par là même à la détermination du sexe foetal, s'inscrit dans une démarche diagnostique, qui fait partie intégrante du bilan morphologique foetal [6,7].…”

Section: Introductionunclassified

Contribution de l'imagerie tridimensionnelle échographique à la visualisation de l'utérus fœtal

Rosenblatt

Jouannic

Brodaty

et al. 2006

Gynécologie Obstétrique & Fertilité

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Sonographic Prenatal Diagnosis of Ambiguous Genitalia

Cited by 17 publications

References 6 publications

The role of imaging in congenital adrenal hyperplasia

The role of imaging in congenital adrenal hyperplasia

What Determines the Rate of Excited‐State Intramolecular Electron‐Transfer Reaction of 4‐(N,N′‐dimethylamino)benzonitrile in Room Temperature Ionic Liquids? A Study in [bmim][PF₆]

Contribution de l'imagerie tridimensionnelle échographique à la visualisation de l'utérus fœtal

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Sonographic Prenatal Diagnosis of Ambiguous Genitalia

Cited by 17 publications

References 6 publications

The role of imaging in congenital adrenal hyperplasia

The role of imaging in congenital adrenal hyperplasia

What Determines the Rate of Excited‐State Intramolecular Electron‐Transfer Reaction of 4‐(N,N′‐dimethylamino)benzonitrile in Room Temperature Ionic Liquids? A Study in [bmim][PF6]

Contribution de l'imagerie tridimensionnelle échographique à la visualisation de l'utérus fœtal

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What Determines the Rate of Excited‐State Intramolecular Electron‐Transfer Reaction of 4‐(N,N′‐dimethylamino)benzonitrile in Room Temperature Ionic Liquids? A Study in [bmim][PF₆]