Clinical case seminar - Sertoli-Leydig cell tumor of the ovary, a rare cause of precocious puberty in a 12-month-old infant

被引:19
作者
Choong, CS [1 ]
Fuller, PJ
Chu, S
Jeske, Y
Bowling, F
Brown, R
Borzi, P
Balazs, ND
Suppiah, R
Cotterill, AM
Payton, D
Robertson, DM
Burger, HG
机构
[1] Flinders Med Ctr, Flinders Canc Ctr, Bedford Pk, SA 5042, Australia
[2] Mater Misericordiae Univ Hosp, Dept Pediat Endocrinol, Brisbane, Qld 4104, Australia
[3] Mater Misericordiae Univ Hosp, Dept Pediat, Brisbane, Qld 4104, Australia
[4] Mater Misericordiae Univ Hosp, Dept Pediat Surg, Brisbane, Qld 4104, Australia
[5] Mater Misericordiae Univ Hosp, Dept Pathol, Brisbane, Qld 4104, Australia
[6] So Cross Pathol Australia, Clayton, Vic 3168, Australia
[7] Prince Henrys Inst Med Res, Clayton, Vic 3168, Australia
关键词
D O I
10.1210/jc.87.1.49
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
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.
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收藏
页码:49 / 56
页数:8
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