Poster Abstract Abstract

(Paediatric), #220531976258

46,XX Male Disorder of Sexual Development

MUHAMMAD KHAIRUL AMRI BIN YUSOFF, HOSPITAL UNIVERSITI SAINS MALAYSIA (HUSM); SUHAIMI BIN HUSSAIN, HOSPITAL UNIVERSITI SAINS MALAYSIA (HUSM); ANHAR SYAZWAN BIN MUHAMMAD ANUAR, HOSPITAL UNIVERSITI SAINS MALAYSIA (HUSM)

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0133486248

Introduction

AN is a 3 years old Malay boy, born via spontaneous vertex delivery at 38 weeks gestation with weighed 3.4 kilogrammes at delivery. He is the youngest of three siblings from a non-consanguineous marriage. He was admitted after delivery due to abnormal genitalia which he had a bifid scrotum with bilateral palpable testes inside the scrotum and a 3 cm penile length at birth, left hydrocele, and penoscrotal hypospadias. He is neither syndromic nor hyperpigmented. Systemic examinations were unremarkable. There was no evidence of maternal virilization, history of neonatal death or syndromic or use of steroids throughout pregnancy.

Methods

single study case report.

Results

Ultrasound pelvis revealed the presence of both testes in the scrotal sac and no evidence of Mullerian structures. Karyotyping showed 46XX with a negative SRY gene. Beta HCG test revealed a positive testosterone response and good Leydig cell function with BHCG on day 1 showed testosterone of 2.67 nmol/L and peaked at 11.43 nmol/L on day 4. LHRH test was done at 3 months old and showed a mini pubertal state, and his Antimullerian hormone level was 164.2 pmol. MRI of the abdomen and pelvis revealed the presence of a left testis measuring 0.4x0.6x0.7cm (0.08ml) and no Mullerian duct features.

Conclusion

The differential diagnosis can be gonadal dysgenesis, an ovotesticular disorder of sexual development or translocations of the XY chromosome. For this case,he was born with ambiguous genitalia and the karyotyping is XX with SRY being negative. Both gonads are palpable. The internal duct are absent of Mullerian structures but this does not rule out the presence of Mullerian structures. Need for diagnostic and therapeutic laparoscopic for further intervention and management. If during laparoscopic noted dysgenetic gonads, need for removal because of risk of malignancy.

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