Advanced International Journal for Research

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A Rare Case of Persistent Müllerian duct syndrome

Author(s) Dr. Lingudu Brahmanandam, Dr. G. Chalapathi, Dr. V. Mrudula Kumari, Dr. C. Swathi, Dr. B. Chaitanya
Country India
Abstract Persistent Müllerian duct syndrome (PMDS) is a rare type of 46XY DSD (Disorders of Sex Development) caused by a deficiency in anti Müllerian hormone (AMH) or a defect in AMH type II receptor. We present 10years old child who reared as male and presented to paediatric surgery department with bilateral undescended testes. Past history of bilateral Fowler Stephen stage-I procedure done in August 2023. Physical examination revealed empty scrotum, normal sized penis and absence of gonads even in the inguinal region. Height and weight were appropriate for the age. Haematological and Biochemical parameters of the child were normal. Hormonal analysis revealed elevated AMH levels. Ultrasonography abdomen and pelvis showed hypoplastic uterus, bilateral pelvic gonads and bilateral mild hydroureteronephrosis. MRI (Magnetic Resonance Imaging) pelvis report showed gonads in parametrium, Horse Shoe Kidney and uterus is not visualized. In view of ambiguity of the both the imagings we have gone for diagnostic laparoscopy. Diagnostic laparoscopy revealed hypoplastic uterus, bilateral pelvic gonads, bilateral vas deferens and gonadal biopsy sent for HistoPathological Examination (HPE). HPE confirmed that microscopic features suggestive of testes. Karyotype analysis detected a 46,XY chromosome pattern. finally we diagnosed the child as 46 XY DSD with PMDS.
Keywords Persistent mullerian duct Syndrome, Anti Mullerian hormone, Anti Mullerian hormone receptor type 2, bilateral undescended testes, laparoscopy.
Field Medical / Pharmacy
Published In Volume 7, Issue 1, January-February 2026
Published On 2026-02-02
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