Sertoli-Leydig cell tumor of the ovary, a rare cause of precocious puberty in a 12-month-old infant.
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.
Choong
Catherine S
CS
Department of Pediatric Endocrinology, Mater Misericordiae Hospitals, South Brisbane, Queensland 4104, Australia. catherine.choong@flinders.edu.au
Fuller
Peter J
PJ
Chu
Simon
S
Jeske
Yvette
Y
Bowling
Francis
F
Brown
Richard
R
Borzi
Peter
P
Balazs
Nicholas D
ND
Suppiah
Ram
R
Cotterill
Andrew M
AM
Payton
Diane
D
Robertson
David M
DM
Burger
Henry G
HG
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
D014408:Biomarkers, Tumor; D012333:RNA, Messenger; D011962:Receptors, FSH; D011974:Receptors, LH; C422364:inhibin B; D000735:Androstenedione; D011374:Progesterone; D007265:Inhibins