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The Prader scale/staging depicts different degrees of virilization of the genitalia. Stage 0 indicates female; stage VI indicates male; the in-between stages I–V represent a variable spectrum of virilization. Notable virilization changes include clitoris transforming to meatus, labia minora transforming to phallus, labia majora transforming to scrotum, vagina merging into urogenital sinus and perineal orifices migrating through hypospadias position to distal meatus. The uterus and upper vagina (Müllerian structures) are illustrated with a dashed line in stages I–V, indicating that they are variably present in stages I–V. The virilized stages are shown as circumcised; foreskin is not depicted to clearly demonstrate transition from clitoris to meatus
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When infants are identified with a difference of sex development (DSD), a thoughtful approach to imaging is essential to appropriate clinical management. This review provides a comprehensive guide for radiologists who are tasked with performing this critical assignment. We review the embryologic basis of DSDs, with attention to the imaging findings...
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Our main aim was to explore any associations in mental health, psychosocial functioning and quality of life (QoL) between childhood, adolescence, and adulthood in the same cohort of patients with a difference in sex development (DSD) born from four decades ago up until early 2000.
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Citations
... This section primarily focuses on initial imaging for diagnostic purposes that also provides a roadmap for surgical planning if needed. Initial imaging aims to determine the presence or absence of a uterus and vagina and evaluate the presence and type of gonads [7][8][9], and ultrasound is the best modality to start in children of all ages, given that it lacks ionizing radiation and does not require sedation. If successful, it may eliminate the need for further imaging. ...
This publication provides an overview of current imaging indications and practices for patients undergoing gender-affirming surgery, with an emphasis on the importance of tailored, patient-specific care. Gender-affirming surgeries are performed with personalized approaches at various stages of life for those with intersex traits or differences in sex development (I/DSD) and transgender and gender diverse (TGD) individuals. For I/DSD patients, ultrasound, genitography, or MRI occurs during infancy and puberty to evaluate genital and gonadal anatomy. Facial harmonization involves bony and soft tissue modifications, guided by maxillofacial computerized tomography (CT) with three-dimensional reconstruction. Ultrasound is the main modality in assessing hormone-related and post-surgical changes in the chest. Imaging for genital reconstruction uses cross-sectional images and fluoroscopy to assess neoanatomy and complications.
... External genitalia is variable. Prader classification I-V are used to assess external genitalia in Congenital adrenal hyperplasia (CAH) where Prader type 1 is clitoromegaly, whereas Prader V is a completely masculinized male genitalia and the sex of rearing depends on the degree of virilization [11]. 3 In a 14-year phenotypical female with discordant karyotype XY, a USG shows right-sided undescended intraabdominal testis (black arrow), adjacent to the urinary bladder (*). ...
Disorders of sexual development (DSD) comprise a complex group of conditions with varied clinical presentations, such as atypical genitalia, non-palpable testes, primary amenorrhea, or infertility. Besides being associated with other congenital anomalies, DSDs bear substantial ethical issues regarding assigning the sex of rearing to the child and future fertility options. Establishing the correct diagnosis is essential for the appropriate management of such cases. Various imaging modalities, such as ultrasonography, genitography, and MRI, when complemented with detailed clinical evaluation and karyotyping, are the key to diagnosing the condition. This article attempts to present a concise approach to various patterns of DSD, which will aid radiologists to solve these diagnostic dilemmas.
Graphical abstract
... The spectrum of congenital malformations of the genitalia is broad and beyond the scope of this paper. Disorders of sex development are covered in more detail in a separate article in this supplement [2]. For the purposes of this review, we focus on Müllerian duct anomalies, which are clinically important to diagnose because of the increased risk of infertility, endometriosis, and recurrent miscarriages later in life [3]. ...
... A contrast-enhanced genitosonogram can also be performed to delineate anatomy (Fig. 14). This imaging modality is covered in more detail in a separate article in this supplement [2]. Content courtesy of Springer Nature, terms of use apply. ...
... The ducts abut the urogenital sinus, inducing the formation of a solid vaginal plate. As the ovaries descend from the gonadal ridge, the caudal Müllerian ducts fuse(2), forming the corpus of the uterus, cervix and upper vagina, and upper portions of ducts form fallopian tubes. ...
Congenital genitourinary anomalies are among the most frequent types of birth defects in neonates. Some anomalies can be a significant cause of morbidity in infancy, while others remain asymptomatic even until adulthood and can be at times the only manifestation of a complex systemic disease. The spectrum of these anomalies results from the developmental insults that can occur at various embryologic stages, and an understanding of the formation of the genitourinary system is helpful in the evaluation and treatment of a child with a congenital genitourinary anomaly. Imaging plays an essential role in the diagnosis of congenital genitourinary anomalies and treatment planning. In this article, we highlight the embryologic and characteristic imaging features of various congenital genitourinary anomalies, demonstrate the utility of different imaging modalities in management, and review specific imaging modalities and protocols for image optimization.
Diagnosing, managing and assigning gender for different causes of ambiguous genitalia in children can be challenging. This article will discuss about the types, diagnosis and treatment of disorders of sex development including congenital adrenal hyperplasia, 46 XY mixed gonadal dysgenesis and 46XY ovotesticular disorder of sex development. This article reports about 3 cases of disorders of sex development. The first case is about a three-year-old girl who was diagnosed with congenital adrenal hyperplasia, genital examination revealed clitoromegaly and a single urogenital sinus; she was managed medically and surgically. The second case is about a one-month-old child with 46XY karyotype, genital examination revealed penoscrotal hypospadias with right palpable and left impalpable gonads. Patient underwent diagnostic laparoscopy in which both female and male internal organs were found; based on these results a diagnosis of 46XY ovotesticular disorder of sex development was made. The third case is about a 3-month-old child with 46XY karyotype, genital examination revealed hypospadias with bilateral impalpable gonads. Diagnostic laparoscopy showed a uterus with a bilateral ovary-looking gonad; histopathology of the bilateral ovary-looking gonads was consistent with testicular tissue. Based on the above, a diagnosis of 46XY mixed gonadal dysgenesis was made. Disorders of sex development are classified into three main categories based on the karyotype, XX, XY and sex chromosome other than XX and XY. Laboratory investigations, karyotype, genetic analysis, imaging, surgery and tissue biopsy, all aid in diagnosing, deciding gender identity and managing different types of disorders of sex development.
