Spot Diagnosis

Four year old child with clitoromegaly

ND Vaswani1, S Lekhwani2
1Department of Pediatrics, PGIMS, Rohtak, India, 2Department of Biochemistry, PGIMS, Rohtak, India

Address for Correspondence: Dr N D Vaswani, 55, 9J medical campus PGIMS ROHTAK, India.
Email: dr_vaswani@yahoo.co.in
Question :
A four year old female child born from non consanguineous marriage {weight 15 kg and height 102 cm with upper segment, lower segment ratio 1:1} presented with clitoral enlargement in pediatric out-patient department of tertiary teaching care hospital in Haryana. According to parents, problem was present since birth but has increased from past one year. No other physical abnormality was detected in that child. On that basis diagnosis of clitoromegaly was suspected. Blood investigations revealed raised levels of testosterone {1.58 ng, ml}, and 17 a-hydroxy progesterone {223.10 ng, ml} with serum electrolytes within normal limits. FSH was raised {3.44 mIU, ml} while LH was normal. Thyroid function tests were normal. Karyotyping revealed female chromosomal complement with no numeric or structural anomalies {46 XX}. Magnetic resonance imaging of pelvis showed a small uterus and hypoplastic vagina. No definite testicular tissue was identified. There was prominence of ischiocavernosus and bulbospongiosus muscles forming a penile like structure with urethral meatus at the base of structure. Bilateral adrenal prominence was noted. X-ray wrist revealed increased bone age {7 years}.





What is the diagnosis?

Discussion :
A four year old female child born from non consanguineous marriage {weight 15 kg and height 102 cm with upper segment, lower segment ratio 1:1} presented with clitoral enlargement in pediatric out-patient department of tertiary teaching care hospital in Haryana. According to parents, problem was present since birth but has increased from past one year. No other physical abnormality was detected in that child. On that basis diagnosis of clitoromegaly was suspected. Blood investigations revealed raised levels of testosterone {1.58 ng, ml}, and 17 a-hydroxy progesterone {223.10 ng, ml} with serum electrolytes within normal limits. FSH was raised {3.44 mIU, ml} while LH was normal. Thyroid function tests were normal. Karyotyping revealed female chromosomal complement with no numeric or structural anomalies {46 XX}. Magnetic resonance imaging of pelvis showed a small uterus and hypoplastic vagina. No definite testicular tissue was identified. There was prominence of ischiocavernosus and bulbospongiosus muscles forming a penile like structure with urethral meatus at the base of structure. Bilateral adrenal prominence was noted. X-ray wrist revealed increased bone age {7 years}.

What is the diagnosis?

Correct Answers : yes  69%

Last Shown : Jun 2010
 
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