title: Sertoli-Leydig cell tumor of the ovary, a rare cause of precocious puberty in a 12-month-old infant.
abstract: We report a 12-month-old infant who presented with a 4-month history of isosexual precocious puberty secondary to an estrogenizing Sertoli-Leydig cell tumor of the ovary. Total serum immunoreactive inhibin and subunits A and B were markedly elevated before surgical resection and subsequently decreased 7 wk later into the normal prepubertal range. Twenty weeks following surgical removal, the patient presented again with central precocious puberty; inhibin B levels were raised on this occasion, a luteinizing releasing hormone stimulation test confirmed central precocious puberty. This is the youngest reported occurrence of this rare sex cord stromal neoplasm. The prognosis of this extremely rare tumor presenting at this early juvenile stage is uncertain. This report illustrates the usefulness of serum inhibin as a tumor marker during therapeutic suppression with leuprorelin acetate for central precocious puberty. Analysis of genomic and tumor DNA revealed a normal nucleotide sequence for the LH receptor and the Galpha(s) gene. To understand the molecular pathogenesis of this tumor we analyzed mRNA levels for the inhibin A and B subunits, FSH receptor, LH receptor aromatase, steroidogenic factor-1 and the ER beta genes. Molecular characterization reveals the presence of genes specific for granulosa and Leydig cells; the relative expression of these genes, in addition to its histologic characteristics, suggests that this tumor may result from a dysdifferentiation of a primordial follicle.
authors.affiliation: Department of Pediatric Endocrinology, Mater Misericordiae Hospitals, South Brisbane, Queensland 4104, Australia. catherine.choong@flinders.edu.au
authors.forename: Catherine S
authors.initials: CS
authors.lastname: Choong
authors.forename: Peter J
authors.initials: PJ
authors.lastname: Fuller
authors.forename: Simon
authors.initials: S
authors.lastname: Chu
authors.forename: Yvette
authors.initials: Y
authors.lastname: Jeske
authors.forename: Francis
authors.initials: F
authors.lastname: Bowling
authors.forename: Richard
authors.initials: R
authors.lastname: Brown
authors.forename: Peter
authors.initials: P
authors.lastname: Borzi
authors.forename: Nicholas D
authors.initials: ND
authors.lastname: Balazs
authors.forename: Ram
authors.initials: R
authors.lastname: Suppiah
authors.forename: Andrew M
authors.initials: AM
authors.lastname: Cotterill
authors.forename: Diane
authors.initials: D
authors.lastname: Payton
authors.forename: David M
authors.initials: DM
authors.lastname: Robertson
authors.forename: Henry G
authors.initials: HG
authors.lastname: Burger
mesh_terms: D000735:Androstenedione / Q000097:blood; D014408:Biomarkers, Tumor / Q000097:blood; D005187:Fallopian Tubes / Q000473:pathology / Q000601:surgery; D005260:Female; D006801:Humans; D007223:Infant; D007265:Inhibins / Q000097:blood / Q000235:genetics; D010051:Ovarian Neoplasms / Q000150:complications* / Q000473:pathology / Q000601:surgery; D016133:Polymerase Chain Reaction; D011374:Progesterone / Q000097:blood; D011629:Puberty, Precocious / Q000097:blood / Q000209:etiology*; D012333:RNA, Messenger / Q000097:blood; D011962:Receptors, FSH / Q000097:blood; D011974:Receptors, LH / Q000097:blood; D017421:Sequence Analysis; D018310:Sertoli-Leydig Cell Tumor / Q000150:complications* / Q000473:pathology / Q000601:surgery
chemical_list: D014408:Biomarkers, Tumor; D012333:RNA, Messenger; D011962:Receptors, FSH; D011974:Receptors, LH; C422364:inhibin B; D000735:Androstenedione; D011374:Progesterone; D007265:Inhibins