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Partial gonadal dysgenesis associated with a pathogenic variant of PBX1 transcription factor
  1. Farnaaz Kia1,
  2. Kyriakie Sarafoglou2,
  3. Ashajyothi Mooganayakanakote Siddappa3 and
  4. Kari D Roberts4
  1. 1 OBGYN, Cedars Sinai Medical Center, Los Angeles, California, USA
  2. 2 University of Minnesota, Minneapolis, Minnesota, USA
  3. 3 Pediatrics–Neonatal, Hennepin County Medical Center, Minneapolis, Minnesota, USA
  4. 4 Pediatrics, University of Minnesota Children’s Hospital, Minneapolis, Minnesota, USA
  1. Correspondence to Dr Farnaaz Kia, farza002{at}


A term neonate was admitted to the Neonatal Intensive Care Unit for respiratory distress, hypotonia and atypical genitalia. Significant findings included a small phallic structure, labial folds, no palpable gonads and two perineal openings. Pelvic ultrasound showed uterine didelphys and a gonad in the right inguinal canal. The right gonad was removed during diagnostic laparoscopy with microscopic evaluation showing infantile testicular tissue and fluorescence in-situ hybridisation showed only XY signal suggesting that the removed gonad was a male-developed testis. Infant was 46,XY, SRY probe positive. The parents chose a female sex assignment prior to gonadectomy. The infant had respiratory insufficiency and central hypotonia that persisted on discharge. Whole exome sequencing showed a heterozygous pathogenic variant of the PBX1 gene. This variant encodes the pre-B-cell leukaemia homeobox PBX transcription factor and has been associated with malformations and severe hypoplasia or aplasia of multiple organs including lungs and gonads. Whole exome sequencing was crucial in providing a unifying diagnosis for this patient.

  • endocrinology
  • genetic screening/counselling
  • obstetrics and gynaecology
  • sexual and gender gisorders

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  • Contributors FK performed a literary review, interpreted the data, drafted and reviewed the work. KDR, KS and AMS were all a part of the treatment team for the patient. They contributed to planning, analysis, reporting, drafting of work and in reviewing the case report. All members of the group contributed to revising the publication to include the editor’s suggestions.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Patient consent for publication Obtained.

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