Disorders of sexual development: structured radiological reporting and practical approach.

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.

The role of ultrasound to evaluate the disorders of sex development: a pictorial essay.

Ultrasonography is usually the first modality used to evaluate patients with disorders of sex development (DSD). To determine the sex in patients with DSD, the following four categories are carefully evaluated: chromosomal, gonadal, anatomical internal genitalia, and external genitalia. However, in the clinical setting, the only information that sonographers have prior to ultrasound examination is the appearance of the external genitalia. The following DSD presentations are commonly observed: (1) male external genitalia present at birth, without testis in the scrotum or with a small penis; (2) female external genitalia present at birth, with an inguinal hernia or clitoromegaly; (3) neonates with ambiguous genitalia at birth; and (4) female or male external genitalia without sexual maturity. In this retrospective study of several clinical cases, we demonstrated an ultrasound-based sex determination approach for these clinical presentations. We found that sonographers evaluated the external genitalia in relation to the distal urethra within the corpus spongiosum and corpus cavernosum and the presence or absence of follicles within the detected gonads to determine the sex of the patient.

The radiologist's role in assessing differences of sex development.

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 that can indicate specific diagnoses. We also discuss techniques for optimal imaging, including strategies for identifying the gonads by US, tactics for performing genitograms with fluoroscopy and contrast-enhanced US, and the appropriate utilization of MRI. Finally, we review the clinical data and imaging findings that characterize some of the most common DSDs, including congenital adrenal hyperplasia, complete androgen insensitivity syndrome and gonadal dysgenesis.

A case of a parthenogenetic 46,XX/46,XY chimera presenting ambiguous genitalia.

Sex-chromosome discordant chimerism (XX/XY chimerism) is a rare chromosomal disorder in humans. We report a boy with ambiguous genitalia and hypospadias, showing 46,XY[26]/46,XX[4] in peripheral blood cells. To clarify the mechanism of how this chimerism took place, we carried out whole-genome genotyping using a SNP array and microsatellite analysis. The B-allele frequency of the SNP array showed a mixture of three and five allele combinations, which excluded mosaicism but not chimerism, and suggested the fusion of two embryos or a shared parental haplotype between the two parental cells. All microsatellite markers showed a single maternal allele. From these results, we concluded that this XX/XY chimera is composed of two different paternal alleles and a single duplicated maternal genome. This XX/XY chimera likely arose from a diploid maternal cell that was formed via endoduplication of the maternal genome just before fertilization, being fertilized with both X and Y sperm.

Prenatal and postnatal imaging techniques in the evaluation of disorders of sex development.

Imaging of the reproductive tract is challenging and requires a general knowledge of congenital variations in anatomy. The anatomy of the developing fetus, whether a male phenotype or female phenotype, is also a dynamic process with many changes occurring during gestation. Families may ask details about the genitalia during prenatal imaging and when variations in what is thought to be normal are present, further investigation is sometimes needed to make sense of what is seen. This overview will describe categories of disorders of sex development (DSD), whether chromosomal or structural or both, and the current state of imaging of these anomalies.

Plea for a standardized imaging approach to disorders of sex development in neonates: consensus proposal from European Society of Paediatric Radiology task force.

This consensus article elaborated by the European Society for Paediatric Radiology task force on gastrointestinal and genitourinary imaging is intended to standardize the imaging approach in newborns with disorders of sex development. These newborns represent a difficult and stressful situation necessitating a multidisciplinary team approach. Imaging plays an important role in the work-up but needs to be optimized and customized to the patient. Ultrasound plays the central role in assessing the genital anatomy. The examination must be conducted in a detailed and systematic way. It must include transabdominal and transperineal approaches with adapted high-resolution transducers. The pelvic cavity, the genital folds, the inguinal areas and the adrenals must be evaluated as well as the rest of the abdominal cavity. A reporting template is proposed. The indications of magnetic resonance imaging and cysto- and genitography are discussed as well as they may provide additional information. Imaging findings must be reported cautiously using neutral wording as much as possible.

Hamartoma perineal congénito con malformación genital y anorrectal, asociado a alteración genética: duplicidad del gen TGIF2LX / Congenital perineal hamartoma with genital and anorectal malformation associated with genetic alteraction: duplicity of the TGIF2LX gene

Se presenta el caso de una gestante de 29 años, en la que en la ecografía de la semana 20 se evidencia un varón con genitales externos ambiguos, sospecha de hipospadias y una masa perineal, con el resto de hallazgos normales. La amniocentesis informa de cariotipo 46 XY normal y microarray CGH con duplicidad del gen TGIF2LX, cuya expresión es testicular y su función parece relacionada con la espermatogénesis, y también duplicidad de su gen homólogo TGIF2LY, cuya significación es desconocida. El seguimiento prenatal es normal, con persistencia de la alteración en genitales externos. Al nacimiento se detecta hipospadias con meato en linea media, escroto bífido y masa de consistencia blanda de 4 cm con apéndice cutáneo, asociado a fístula rectoperineal. Las pruebas de imagen indican que se trata de una masa perineal exófitica de 2,2 x 4 cm, de apariencia grasa con nódulo sólido de 1,4 cm en su interior, que podría corresponder a tumor de estirpe grasa de aspecto benigno. Intervenido para resección de la masa a los 11 días de vida, anorrectoplastia posterior y localización de neoano mediante neuroestimulación. El diagnóstico anatomopatológico es hamartoma perineal congénito, con músculo liso, cartílago maduro y tejido adiposo, sin evidencia de malignidad. El postoperatorio precisa de dilataciones anales hasta conseguir defecación espontánea, pero en general es normoevolutivo. El hamartoma perineal congénito es un tumor raro y casi siempre aparece asociado a alguna malformación genital o anorrectal, pero no hay publicaciones que describan correlación con alteraciones genéticas, como podría ser nuestro caso

We present the case of a 29 years old patient, in which the ultrasound of week 20 shows a male with ambiguous external genitals, suspected hypospadias and a perineal mass, with the rest of normal findings. Amniocentesis reports normal 46 XY karyotype and CGH microarray with duplicity of the TGIF2LX gene, whose expression is testicular and its function seems related to spermatogenesis, and also duplicity of its homologous gene TGIF2LY, whose significance is unknown. The prenatal follow-up is normal, with persistence of the alteration in external genitals. At birth, hypospadias was detected with a midline meatus, bifid scrotum, and a soft consistency mass of 4 cm with cutaneous appendage, associated with rectoperineal fistula. The imaging tests indicate an exophytic perineal mass of 2.2 x 4 cm, with a greasy appearance and a solid nodule measuring 1.4 cm inside, which could correspond to a benign-looking fat line tumor. Intervened for resection of the mass at 11 days of life, posterior anoreplasty and neoano localization by neurostimulation. The anatomopathological diagnosis is congenital perineal hamartoma, with smooth muscle, mature cartilage and adipose tissue, without evidence of malignancy. The postoperative period requires anal dilations until spontaneous defecation, but in general it is normal. The congenital perineal hamartoma is a rare tumor and almost always appears associated with some genital or anorectal malformation, but there are not publications that describe correlation with genetic alterations, how could our case be

MR Imaging Evaluation of Pediatric Genital Disorders:: MR Technologic Overview and Interpretation.

MR imaging is frequently used to assess pediatric genital disorders. The ability to obtain 3-dimensional sequences allowing for multiplanar reformations and sequences designed to minimize motion artifact have aided in the imaging evaluation in the pediatric population. For certain genital disorders, such as Müllerian duct anomalies, MR imaging has become the standard imaging technique. This article discusses up-to-date MR imaging techniques and the interpretation of findings including normal anatomy, as well as congenital and acquired genital disorders seen in the pediatric population.

Ultrasonographic and multimodal imaging of pediatric genital female diseases.

Ultrasonography is the first-line imaging modality in the evaluation of the female pelvis in childhood and adolescence, because it is easy to perform, non-invasive and it does not require sedation. The transabdominal approach is preferred in children and adolescents, after filling the bladder to move away the bowel loops from the pelvis. The probe frequency must be adapted to age, thickness of tissues and depth of the structures under examination. High-frequency (4-12 MHz) linear or convex probes are used in newborns; high-frequency linear probes (4-12 MHz) in toddler, convex 5-7.5 MHz probes in girls and convex 3.5-5 MHz probes in teenagers. In this article, the main pathological conditions of the genital female tract in pediatric age are examined, such as congenital anomalies, disorders of sex development, ovarian cysts, ovarian tumors, adnexal torsion, primary amenorrhea, precocious puberty and pelvic inflammatory disease.

A rare case of hydrometrocolpos from persistent urogenital sinus in patient affected by adrenogenital syndrome.

Persistent urogenital sinus (PUGS) is a congenital pathological condition characterized by an abnormal communication between the urethra and vagina, which has an estimated incidence of 0.6/10,000 female births. It could be the only known malformation or part of a syndrome. PUGS is commonly shown by a pelvic mass, related to a distended bladder, hydrometrocolpos which is due to an obstruction leading to the dilation of the vagina and uterus (i.e., imperforate hymen, transverse vaginal septum or atresia, and PUGS) or both. We present a case of female patient with classical congenital adrenal hyperplasia, diagnosed on the 7th day of life, with ambiguous genitalia, untreated surgically only with hormone therapy by parental decision. The patient, at the age of 5 years and 5 months, came to our observation for a pelvic ultrasound, which revealed retrovesical neoformation with anechoic content and regular walls. We performed the ultrasound examination that showed the dilation of the cervix and the vaginal canal with anechoic finely corpuscolated content in the declining portion, compatible with hydrometrocolpos from probable persistence of the urogenital sinus. The voiding cystourethrography (VCUG) confirmed the ultrasound diagnosis, with evidence of urogenital sinus. In conclusion, ultrasound is the first diagnostic tool, but need to be completed by other technical procedures, which VCUG or magnetic resonance imaging to observe the site of fusion of the urinary and genital tract.

Endoscopy and Laparoscopy in Disorders of Sex Development.

Endoscopy and laparoscopy are used for the assessment of disorders of sex development (DSD) and therapeutic interventions. Endoscopy (urethra-cystoscopy, vaginoscopy) is especially useful when vaginal or urethral surgery is planned. It is also valuable for the assessment of complications. Laparoscopy is used to identify sex ducts and gonads and to perform minimally invasive abdominal and pelvic surgery. This article reviews clinical indications, limitations, findings, and their reporting. It further discusses the impact of these findings on care in typical clinical situations.

Hipoparatiroidismo y trastorno del desarrollo sexual: una asociación inusual / Hypoparathyroidism and disorder of sex development: A rare association

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Imaging Techniques in the Diagnostic Journey of Disorders of Sex Development.

Various disorders of sex development (DSD) result in an abnormal development of genitalia that may be recognized at prenatal ultrasonography, immediately after birth, or later in life. Because of the complex nature of DSD, the participation of a multidisciplinary team, including imaging or radiology technologists, is required to address the patient's medical needs. The first steps in the management of DSD are sex evaluation, which is based on factors such as the genotype, the presence, location, and appearance of reproductive organs, the potential for fertility, and the cultural background and beliefs of the patient's family. It is also important to ensure the detection of comorbidity (as in syndromes) and to define the etiology of DSD in order to offer the best prognosis. Ultrasonography is the primary modality for demonstrating internal organs, genitography is used to assess the urethra, vagina, and any fistulas, and magnetic resonance imaging is used as an additional modality to assess internal gonads and genitalia. This review presents the advantages and disadvantages and the sensitivity and specificity for each type of radiological imaging to help in the evaluation of DSD cases before and after birth.

Persistent Mullerian Duct Syndrome: a rare entity with a rare presentation in need of multidisciplinary management

ABSTRACT Main findings: A typical male looking adolescent with a legal female gender assignment presented with haematuria. Investigations led to the diagnosis of Persistent Mullerian Duct Syndrome. The condition is indeed a rare entity that needs a multidisciplinary team management. Case hypothesis: A case of Persistent Mullerian Duct Syndrome undiagnosed at birth because karyotyping was defaulted, thus resulting in a significant impact on the legal gender assignment and psychosocial aspects. Promising future implications: The reporting of this case is important to create awareness due to its rarity coupled with the rare presentation with hematuria as a possible masquerade to menstruation. There were not only medical implications, but also psychosocial and legal connotations requiring a holistic multidisciplinary management.

Persistent Mullerian Duct Syndrome: a rare entity with a rare presentation in need of multidisciplinary management.

MAIN FINDINGS: A typical male looking adolescent with a legal female gender assignment presented with haematuria. Investigations led to the diagnosis of Persistent Mullerian Duct Syndrome. The condition is indeed a rare entity that needs a multidisciplinar team management. Case hypothesis: A case of Persistent Mullerian Duct Syndrome undiagnosed at birth because karyotyping was defaulted, thus resulting in a significant impact on the legal gender assignment and psychosocial aspects. Promising future implications: The reporting of this case is important to create awareness due to its rarity coupled with the rare presentation with hematuria as a possible masquerade to menstruation. There were not only medical implications, but also psychosocial and legal connotations requiring a holistic multidisciplinary management.

Utility of Ultrasound and Magnetic Resonance Imaging in Patients with Disorders of Sex Development Who Undergo Prophylactic Gonadectomy.

STUDY OBJECTIVE: To evaluate ultrasonography and magnetic resonance imaging (MRI) in identifying gonads in patients with disorders of sex development (DSD) who undergo prophylactic gonadectomy, and to assess the capacity of preoperative imaging to detect premalignant and malignant transformation. DESIGN, SETTING, AND PARTICIPANTS: Retrospective cohort at a tertiary referral center of 39 patients with DSD who underwent MRI and/or ultrasonography before prophylactic gonadectomy. INTERVENTIONS: None. MAIN OUTCOME MEASURES: Identification of gonads on preoperative imaging. RESULTS: Thirty-three patients underwent ultrasonography, which identified 54% (35/65) of gonads and 14 patients had MRI, which identified 41% (11/27) of gonads. There was no significant difference between imaging modalities in the proportion of gonads identified (P = .25). The proportion of pathology-confirmed dysgenetic gonads identified was higher on ultrasound compared with MRI (51% vs 8%; P = .02). There was no difference in the proportion of pathology-confirmed testes identified on ultrasound and MRI (54% vs 71%; P = .33). Eleven out of 39 patients (28%) were diagnosed with a premalignant lesion, and there were no distinguishing characteristics documented on imaging reports to suggest transformation. The only diagnosed malignancy in this series had imaging describing a "normal-sized ovary." CONCLUSION: Ultrasonography and MRI identified 40%-50% of gonads in patients with DSD who underwent prophylactic gonadectomy, with no significant difference between the 2 modalities. Clinicians should, therefore, consider ultrasonography as a first-line imaging modality. Premalignant lesions were not detected on either imaging modality. The only malignancy was described as a "normal-sized ovary" which should raise concern in a patient with complete gonadal dysgenesis expected to have streak gonads.