Male Pseudohermaphroditism

Article

A 15-year-old female patient with primary amenorrhea and absent secondary sexual characters.

History: A 15-year-old female patient with primary amenorrhea and absent secondary sexual characters.

[[{"type":"media","view_mode":"media_crop","fid":"12014","attributes":{"alt":"Male Pseudohermaphroditism","class":"media-image","id":"media_crop_2356742885511","media_crop_h":"0","media_crop_image_style":"-1","media_crop_instance":"232","media_crop_rotate":"0","media_crop_scale_h":"0","media_crop_scale_w":"0","media_crop_w":"0","media_crop_x":"0","media_crop_y":"0","title":" ","typeof":"foaf:Image"}}]]

Figure 1: Sagittal T2WI shows completely absent uterus or vagina (arrows)

[[{"type":"media","view_mode":"media_crop","fid":"12015","attributes":{"alt":"Male Pseudohermaphroditism","class":"media-image","id":"media_crop_5869939131551","media_crop_h":"0","media_crop_image_style":"-1","media_crop_instance":"233","media_crop_rotate":"0","media_crop_scale_h":"0","media_crop_scale_w":"0","media_crop_w":"0","media_crop_x":"0","media_crop_y":"0","title":" ","typeof":"foaf:Image"}}]]

 Figure 2: Coronal T2WI shows feminine external genitalia (arrows)

[[{"type":"media","view_mode":"media_crop","fid":"12016","attributes":{"alt":"Male Pseudohermaphroditism","class":"media-image","id":"media_crop_910500200005","media_crop_h":"0","media_crop_image_style":"-1","media_crop_instance":"234","media_crop_rotate":"0","media_crop_scale_h":"0","media_crop_scale_w":"0","media_crop_w":"0","media_crop_x":"0","media_crop_y":"0","title":" ","typeof":"foaf:Image"}}]]

Figure 3: Axial T2WI shows feminine perineum with absent male external genitalia

[[{"type":"media","view_mode":"media_crop","fid":"12017","attributes":{"alt":"Male Pseudohermaphroditism","class":"media-image","id":"media_crop_1458884515425","media_crop_h":"0","media_crop_image_style":"-1","media_crop_instance":"235","media_crop_rotate":"0","media_crop_scale_h":"0","media_crop_scale_w":"0","media_crop_w":"0","media_crop_x":"0","media_crop_y":"0","title":" ","typeof":"foaf:Image"}}]]

Figure 4: Coronal T2WI and post contrast T1 fat sat show bilateral inguinal testis (arrows)

Discussion: Disorders of sex development (DSDs) are congenital conditions in which the development of chromosomal, gonadal, or anatomic sex is atypical. DSDs can be classified broadly into four categories on the basis of gonadal histologic features 1:
(a) female pseudohermaphroditism (46,XX with two ovaries);
(b) male pseudohermaphroditism (46,XY with two testes);
(c) true hermaphroditism (ovotesticular DSD) (both ovarian and testicular tissues); and
(d) gonadal dysgenesis, either mixed (a testis and a streak gonad) or pure (bilateral streak gonads).

Current methods for diagnosing DSD include a thorough physical examination, laboratory tests to determine hormone levels and identify chromosomal abnormalities, and radiologic imaging of the genitourinary tract and adjacent organs.2

Ultrasonography is the primary modality for demonstrating internal organs; Genitography is used to assess the urethra, vagina, and any fistulas or complex tracts; Magnetic resonance imaging is used as an adjunct modality to assess for internal gonads and genitalia. Early and appropriate gender assignment is necessary for healthy physical and psychologic development of children with ambiguous genitalia.

Classification and New Terminology2: A new nomenclature and classification system as well as new management recommendations for DSD was introduced. These disorders were further subdivided into 46,XY DSD (disorders of gonadal or testicular development and impaired androgen synthesis or action), 46,XX DSD (disorders of gonadal or ovarian development and androgen excess), and chromosomal DSD (numeric sex chromosome anomalies). There is some overlap between these three subgroups. This new terminology has replaced the older terms hermaphroditism and pseudohermaphroditism and emphasizes the genetic origin of the disorders.

Diagnosis: Old terminology: Male pseudohermaphroditism, XY male undermasculinization; New terminology: 46,XY DSD

Finding: Male gonadal development is abnormal, androgen synthesis or action is deficient, external genitalia are undermasculinized to a variable degree.

Tougan Taha MD
Lecturer of Radiodiagnosis
Ain Shams University
Cairo, Egypt

Newsletter

Stay at the forefront of radiology with the Diagnostic Imaging newsletter, delivering the latest news, clinical insights, and imaging advancements for today’s radiologists.

Recent Videos
New Mammography Research Examines Impact of High-Resolution DBT
Can Radioligand Therapy Have an Impact for Women with Breast Cancer?
Emerging Concepts in CT-Guided Treatment of Coronary Artery Disease
SNMMI: Emerging PET Insights on Neuroinflammation with Progressive Apraxia of Speech (PAOS) and Parkinson-Plus Syndrome
Improving Access to Nuclear Imaging: An Interview with SNMMI President Jean-Luc C. Urbain, MD, PhD
SNMMI: 18F-Piflufolastat PSMA PET/CT Offers High PPV for Local PCa Recurrence Regardless of PSA Level
SNMMI: NIH Researcher Discusses Potential of 18F-Fluciclovine for Multiple Myeloma Detection
SNMMI: What Tau PET Findings May Reveal About Modifiable Factors for Alzheimer’s Disease
Emerging Insights on the Use of FES PET for Women with Lobular Breast Cancer
Can Generative AI Reinvent Radiology Reporting?: An Interview with Samir Abboud, MD
Related Content
© 2025 MJH Life Sciences

All rights reserved.