Case 15978 Mixed gonadal dysgenesis · Case 15978 Mixed gonadal dysgenesis Dr Alka Ashmita Singhal, Dr Ganesh Jevalikar1, Dr Kulbir Ahalawat Medanta Division of Radiology and Nuclear

Case 15978 Mixed gonadal dysgenesis

Dr Alka Ashmita Singhal, Dr Ganesh Jevalikar , Dr Kulbir Ahalawat1

Medanta Division of Radiology and Nuclear Medicine; Medanta Division of Endocrinology and1

Diabetes, Medanta The Medicity Hospital, Sector 38 Gurugram 122002 Delhi, India;

Email:[email protected]

MEDANTA THE MEDICITY HOSPITAL

Paediatric Radiology Section: 2018, Nov. 5 Published:

1 month(s), malePatient:

Clinical History

A one-month old child presented with atypical genitalia. On examination, an enlarged phallus and a

small scrotal sac with skin rugosities was seen (Figure 1). Both scrotal sacs were empty, however a

small gonad was palpable in the right inguinal region. Penoscrotal hypospadias with a single meatus

was noted.

Imaging Findings

MRI Pelvis showed a uterine-like structure posterior to the urinary bladder, and bilateral oval

homogeneous structures in both inguinal canals suggestive of dysgenetic testes. A possible small

prostate was noted at its expected location (Figure 2).

Ultrasound showed a uterus measuring 22x8x7mm located behind the urinary bladder, a normal

appearing cervix, and part of the vagina could also be seen. A faint central endometrial lining could

be appreciated in the uterus (Figure 3). Both scrota were empty. Both gonads were located in the

inguinal canal (Figure 4). The right gonad measured 13x5mm, the left 10x6mm. No ovarian

follicular tissue was seen in either inguinal canal or pelvis.

Ultrasound of the upper abdomen to exclude any adrenal lesion showed no abnormality.

Imaging diagnosis of an infantile uterus and bilateral dysgenetic undescended testes located in the

inguinal canals was made.

Discussion

The disorders of sexual development (DSD) are a group of conditions resulting from mismatch

between chromosomal, gonadal and anatomic sex[1, 2]

Our patient presented with atypical genitalia and a right sided palpable gonad, which is considered

to be a testes unless proven otherwise. Enlarged phallus and formation of scrotal sacs with rugosity

suggest androgen exposure in utero.

Imaging helps establish the presence or absence of the uterus or other Mullerian structures and is

diagnostically helpful. As well as producing androgens, testes produce anti-Mullerian hormone

(AMH) which is responsible for regression of Mullerian structures in males. The presence of a

uterine-like Mullerian structure in a patient with ambiguous genitalia, and an XX karyotype, may be

secondary to CAH (congenital adrenal hyperplasia) and associated excess androgen exposure, or

may occur in patients with an XY karyotype but with defective AMH production preventing the

inhibition of the development of Mullerian structures. Persistent Mullerian duct syndrome (PMDS)

is a rare condition with presence of a uterus in a phenotypic male due to defective AMH production

or action. The penis is normally developed but cryptorchidism may be present.

In addition to being diagnostically helpful, the presence of a uterus also indicates possibility of

having menstruation and pregnancy using artificial reproduction techniques for such children. This

is an important factor when considering the sex of rearing.

In the index case, hormonal profile showed FSH of 9.75 IU/L, LH 9.55 IU/L and serum total

testosterone 148 ng/dL(N 20-130 ng/dL) and AMH of 16.56ng/ml. The karyotype result was 45,

X/46, XY. Presence of well-formed phallus and scrotum, production of testosterone (therefore its

impact on androgenization of brain) favoured male sex of rearing in this child. This would entail

orchidopexy (or orchidectomy if gonad is a streak or cannot be brought down to scrotal sac),

multi-stage hypospadias repair and chordee correction. The risk of gonadal malignancy in

individuals with 45, X/46, XY mosaicism and its variants has been described to be 10-15% [3],

however, it can be as high as 50% [4], in those with most pronounced sexual ambiguity. Hence

retained gonads need to be periodically clinically and radiologically evaluated for development of

malignancy. Other associations include short stature, Turner syndrome like dysmorphic features and

renal and cardiac malformations.

Imaging is the key to establishing an accurate diagnosis and guiding management. Ultrasound is

diagnostic and MRI may be performed in select cases.

'Written informed patient consent for publication has been obtained.'

Final Diagnosis

Mixed gonadal dysgenesis

Differential Diagnosis List

45X/46XY Mosaicism, Androgen insensitivity syndrome, Cryptorchidism, Congenital adrenal

hyperplasia, Ovotesticular DSD

Figures

Figure 1 Patient photograph of external genitalia

Figure 1 (a,b) : Patient photograph showing ambiguous genitalia.Enlarged phallus and asmall scrotal sac with skin rugosities is noted.

© Department of Radiology, Medanta The Medicity, Delhi, India, with due written consent as per COPE guidelines

Area of Interest: Paediatric; Imaging Technique: Image manipulation / Reconstruction;

Procedure: eLearning; Special Focus: Endocrine disorders;

Figure 1 (a,b) : Patient photograph showing ambiguous genitalia.Enlarged phallus and asmall scrotal sac with skin rugosities is noted.

© Department of Radiology, Medanta The Medicity, Delhi, India, with due written consent as per COPE guidelines

Area of Interest: Paediatric; Imaging Technique: Image manipulation / Reconstruction;

Procedure: eLearning; Special Focus: Endocrine disorders;

Figure 2 Figure 2 (a,b,c) MRI Pelvis -T2 weighted images

Mid-Sagittal pelvic T2 weighted images showing an infantile uterus interposed betweenbladder and rectum. Faint endometrial stripe is appreciated

© Medanta Division of Radiology and Nuclear Medicine, Medanta The Medicity, Delhi, India

Area of Interest: Genital / Reproductive system female; Genital / Reproductive system male; Imaging Technique: MR;

Procedure: Diagnostic procedure; Special Focus: Endocrine disorders;

T2 weighted axial pelvic images showing an infantile uterus interposed between bladder andrectum.




Coronal T2 Weighted images(c)showing bilateral well defined oval intermediate signalintensity areas in both inguinal canals, resembling testis. No follicular tissue is seen.




Figure 3 Ultrasound pelvis

Figure 3a Pelvic ultrasound of 1-month old child-Longitudinal scan showing well delineateduterus located just posterior to the urinary bladder. Cervix and vagina well seen. Endometrialstripe is appreciated.


Area of Interest: Genital / Reproductive system female; Genital / Reproductive system male; Imaging Technique: Ultrasound;


Figure 3 b Pelvic ultrasound showing well delineated uterus located just posterior to theurinary bladder (empty in this case) Cervix and vagina well seen. Endometrial stripe isappreciated and marked.




Figure 3 c Pelvic ultrasound showing well delineated uterus marked with asterix, located justposterior to the urinary bladder (empty in this case) Cervix and vagina well seen.




Figure 4 Ultrasound groin

Figure 4a Ultrasound groin-Longitudinal scan of right inguinal region showing well definedovoid homogenous solid area suggestive of right testis located in the left inguinal canal.




Figure 4b Ultrasound groin-Longitudinal scan of left inguinal region showing well definedovoid homogenous solid area suggestive of left testis located in the left inguinal canal.




References

[1] McCann-Crosby B, Mansouri R, Dietrich JE, et al (2014) State of the art review in gonadal

dysgenesis: challenges in diagnosis and management. International Journal of Pediatric

Endocrinology. 2014;2014(1):4. doi:10.1186/1687-9856-2014-4.

[2] Hughes IA1, Houk C, Ahmed SF, Lee PA; LWPES Consensus Group; ESPE Consensus Group.

(2006) Consensus statement on management of intersex disorders. Arch Dis Child.

Jul;91(7):554-63.

[3] Martinerie L1, Morel Y, Gay CL, Pienkowski C, de Kerdanet M, Cabrol S, Lecointre C, Coutant

R, Baron S, Colle M, Brauner R, Thibaud E, Leger J, Nihoul-Fekete C, Bouvattier C. (2012)

Impaired puberty, fertility, and final stature in 45,X/46,XY mixed gonadal dysgenetic patients

raised as boys. Eur J Endocrinol. Apr;166(4):687-94

[4] M. Cools J. Pleskacova H. Stoop P. Hoebeke E. Van Laecke S. L. S. Drop J. Lebl J. W.

Oosterhuis L. H. J. Looijenga K. P. Wolffenbuttel (2011) Gonadal Pathology and Tumor Risk in

Relation to Clinical Characteristics in Patients with 45,X/46,XY Mosaicism The Journal of Clinical

Endocrinology & Metabolism Volume 96, Issue 7, 1 July 2011, Pages E1171-E1180

Citation

Dr Alka Ashmita Singhal, Dr Ganesh Jevalikar , Dr Kulbir Ahalawat1

Medanta Division of Radiology and Nuclear Medicine; Medanta Division of Endocrinology and1

Diabetes, Medanta The Medicity Hospital, Sector 38 Gurugram 122002 Delhi, India;

Email:[email protected] (2018, Nov. 5)

Mixed gonadal dysgenesis {Online}URL: http://www.eurorad.org/case.php?id=15978

Documents

Case 15978 Mixed gonadal dysgenesis · Case 15978 Mixed gonadal dysgenesis Dr Alka Ashmita Singhal, Dr Ganesh Jevalikar1, Dr Kulbir Ahalawat Medanta Division of Radiology and Nuclear