clarifying ambiguous genitalia

Clarifying ambiguous genitalia..Radiologist role.

Dr/Ahmed BahnassyConsultant Radiologist

RMHEmail:aatteya2001@yahoo.com

Introduction

Reproductive system development

Embryology

Sexual differentiation.

ClassificationDSDs can be classified broadly into four categories on the basis of gonadal histologic features: female pseudohermaphroditism (46,XX with two ovaries)male pseudohermaphroditism (46,XY withtwo testes); true hermaphroditism (ovotesticular DSD) (both ovarian and testicular tissues); and gonadal dysgenesis :either mixed (a testis and a streak gonad) or pure (bilateral streak gonads).

Male pseudohermaphroditism

• Persistent Mullerian duct syndrome.

• Testicular unresponsiveness to HCG & LH (Leyding Cell Hypoplasia).

• 5 Alpha Reductase Deficiency.

• Androgen Insensitivity Syndrome (cAIS & pAIS).

Work-up

coordinated medical team that includes a pediatric endocrinologist, geneticist, urologist, and radiologist

to ensure timely diagnosis and proper

management.

Role of imaging

US is the primary modality for evaluation of the internal reproductive organs,

whereas genitography and voiding

cystourethrography are used for evaluation of urethral and vaginal tracts and fistulas.

MR imaging may serve as a problem-solving modality for clarifying the internal anatomy and searching for internal gonads.

Ultrasound• Renal

• Adrenal.

• Pelvis.

• Perineum.

• Both inguinal regions.

• Upper thighs !

Adrenal Imaging

partial androgen insensitivitysyndrome (Reifenstein syndrome)

Ovotesticular DSD

MGD

Fluoroscopy-Genitography

It is important to examine

all perineal orifices and insert the catheter for

a short distance into each orifice to preserve its

morphologic appearance.

A good maneuver is to

fill the balloon of an 8-F Foley catheter outside

the body and insert just the distal tip, performing

a retrograde injection.

Cloacal anomaly

Urogenital sinus

Complex urogenital sinus anomaly

Role of MRI

Ectopic gonads, testes, and noncystic

immature ovaries have intermediate signal intensity on T1-weighted MR images and high signal intensity with an intermediate-signal-intensity outer rim on T2-weighted images

Testis in MRI

Ovaries in MRI

Streak gonads are difficult to detect and can be seen as low-signal-intensity stripes on T2-weighted images .

High-signal-intensity foci in streak gonads

could represent neoplastic change .

Algorithm

Risk of Neoplasm

Because 20%–30% of children with XY PGDand 15%–20% with MGD develop a gonadalneoplasm within the 1st or 2nd decade of life,streak gonads should be removed . The presence of a well-defined part of the Y chromosome(GBY [gonadoblastoma locus on theY chromosome]) is implicated in the developmentof malignant neoplasms in dysgeneticgonads . Gonadoblastoma is the most commontumor, usually arising from dysgeneticintraabdominal gonads

Attention

The presence of an echogenic focus at

US associated with the pelvic organs or found in ectopic gonadal tissue within the inguinal canals or labioscrotal folds should be regarded with suspicion, since gonadoblastomas often calcify.

Testicular Neoplasm

Wilm’s Tumour

There is increased risk of developing

Wilms tumor, particularly when XY gonadal

dysgenesis is associated with glomerulopathy in

Drash syndrome

Breast Cancer

Risk factors for male breast cancer include conditions with increased estrogen exposure, such as advanced age, cryptorchidism, testicular injury,

Klinefelter’s syndrome, and liver dysfunction.