title: Presence of Germ Cells in Disorders of Sex Development: Implications for Fertility Potential and Preservation.
abstract: We sought to determine the presence of germ cells in the gonads of patients with disorders of sex development to establish whether preservation of germ cells for future fertility potential is possible. We hypothesized that germ cells are present but vary by age and diagnosis.
  
  
  
  We reviewed histology from patients with disorders of sex development who underwent gonadectomy/biopsy from 2002 to 2014 at a single institution for pathological classification of the gonad, composition of gonadal stroma and germ cell presence.
  
  
  
  A total of 44 patients were identified and germ cells were present in 68%. The presence and average number of germ cells per mm2were analyzed by gonad type and diagnosis. By gonad type all ovotestes, most testes, ovaries and dysgenetic testes, and 15% of streak gonads had germ cells present. By diagnosis germ cells were present in all patients with complete androgen insensitivity syndrome, Denys-Drash syndrome, SRY mutation, mixed gonadal dysgenesis, ovotesticular conditions and StAR (steroid acute regulatory protein) deficiency, in some patients with persistent müllerian duct syndrome, XO/XY Turner syndrome and disorders of sex development not otherwise specified, and in none with complete or partial gonadal dysgenesis. Germ cells were present in the gonads of 88% of patients 0 to 3 years old, 50% of those 4 to 11 years old and 43% of those older than 12 years.
  
  
  
  Germ cells were present in the majority of our cohort and the presence decreased with age. This novel, fertility driven evaluation of germ cell quantity in a variety of disorders of sex development suggests that fertility potential may be greater than previously thought. Further studies must be done to evaluate a larger population and examine germ cell quality to determine the viability of these germ cells.
authors.affiliation: Division of Endocrinology, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois. Electronic address: cfinlayson@luriechildrens.org.
authors.forename: Courtney
authors.initials: C
authors.lastname: Finlayson
authors.affiliation: Department of Pathology, Northwestern University Feinberg School of Medicine, Chicago, Illinois.
authors.forename: Michael K
authors.initials: MK
authors.lastname: Fritsch
authors.affiliation: Division of Urology, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois; Department of Urology, Northwestern University Feinberg School of Medicine, Chicago, Illinois.
authors.forename: Emilie K
authors.initials: EK
authors.lastname: Johnson
authors.affiliation: Division of Urology, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois.
authors.forename: Ilina
authors.initials: I
authors.lastname: Rosoklija
authors.affiliation: Division of Hematology Oncology, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois.
authors.forename: Yasmin
authors.initials: Y
authors.lastname: Gosiengfiao
authors.affiliation: Division of Urology, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois; Department of Urology, Northwestern University Feinberg School of Medicine, Chicago, Illinois.
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Yerkes
authors.affiliation: Division of Pediatric Surgery, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois; Department of Surgery, Northwestern University Feinberg School of Medicine, Chicago, Illinois.
authors.forename: Mary Beth
authors.initials: MB
authors.lastname: Madonna
authors.affiliation: Department of Obstetrics and Gynecology, Northwestern University Feinberg School of Medicine, Chicago, Illinois.
authors.forename: Teresa K
authors.initials: TK
authors.lastname: Woodruff
authors.affiliation: Division of Urology, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois; Department of Urology, Northwestern University Feinberg School of Medicine, Chicago, Illinois.
authors.forename: Earl
authors.initials: E
authors.lastname: Cheng
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D012734:Disorders of Sex Development / Q000150:complications*; D005260:Female; D059247:Fertility Preservation; D005854:Germ Cells; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007246:Infertility / Q000209:etiology*; D008297:Male; D010053:Ovary / Q000166:cytology*; D013737:Testis / Q000166:cytology*
keywords: disorders of sex development; fertility; germ cells; ovary; testis