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Mixed Gonadal Dysgenesis in 45,X Turner Syndrome with SRY Gene

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Mixed Gonadal Dysgenesis in 45,X Turner Syndrome with SRY Gene Case report http://dx.doi.org/10.6065/apem.2015.20.4.226 Ann Pediatr Endocrinol Metab 2015;20:226-229 Mixed gonadal dysgenesis in 45,X Turner syndrome with SRY gene Jae Yeop Jung, MD1, Turner syndrome is the most common chromosomal disorder in girls. Various Sohyoung Yang, MD1, phenotypic features show depending upon karyotype from normal female through Eun-Hwan Jeong, MD2, ambiguous genitalia to male. Usually, Turner girls containing 45,X/46,XY mosaicism, Ho-Chang Lee, MD3, or sex-determining region Y (SRY) gene may have mixed gonadal dysgenesis with Yong-Moon Lee, MD3, various external sexual differentiation. We experienced a short statured 45,X Turner girl with normal external genitalia. Because SRY gene was positive, laparoscopic Heon-Seok Han, MD1, 4 gonadectomy was performed. The dysgenetic gonads revealed bilateral ovotesti- Kyung Hee Yi, MD cular tissues. The authors report a mixed gonadal dysgenesis case found in clinical 45,X Turner patient with positive SRY gene. Screening for SRY gene should be done 1 Departments of Pediatrics, even the karyotype is 45,X monosomy and external genitalia is normal. 2Obstetrics & Gynecology, and 3Anatomic Pathology, Chungbuk Keywords: Turner syndrome, Mixed gonadal dysgenesis, SRY genes National University College of Medicine, Cheongju, 4Department of Pediatrics, Wonkwang University Sanbon Medical Center, Gunpo, Korea Introduction Mixed gonadal dysgenesis (MGD) is a disorder of the sexual differentiation characterized primarily by dysgenetic testicular tissue on one side and a streak gonad on the other. The clinical phenotype varies considerably and depends on the amount of secreted testosterone by fetal testis. Thus, the phenotype ranges from normal male through patients with ambiguous external genitalia to females1). MGD is heterogeneous in its etiology and that incomplete development of the testis can be due to an error in either testis determination or differentiation. Mutations in testis determining gene such as SRY are not generally found in this condition2). Dysgerminoma and clitoromegaly were reported as clinical evidence of Y chromosome material in 45,X Turner patients, whose SRY gene was detected in polymerase chain reaction-amplified DNA test3). Unrecognized Y-derived material is known to increase the risk of gonadal neoplasia, especially gonadoblastoma, therefore every effort should be paid for the detection of Y-derived material in Turner patients4-6). In this report, authors report an MGD case found in clinical 45,X Turner patient with positive SRY gene. Received: 17 August, 2015 Revised: 24 Spetember, 2015 Case report Accepted: 8 October, 2015 Ten years and 3 month-old girl was brought to endocrine clinic for short stature. She was Address for correspondence: Kyung Hee Yi, MD delivered uneventfully at 40 weeks of gestation with 3.2 kg. On exam, her height was 116 Department of Pediatrics, cm (<3th percentile), body weight was 19.3 kg(<3th percentile), breast was prepubertal. She Wonkwang University Sanbon had neither cubitus valgus deformity nor webbed neck. Knuckle sign was negative. Multiple Medical Center, 327 Sanbon-ro, freckles were found at back area. Audiometry, echocardiography, kidney ultrasonography Gunpo 15865, Korea were all normal. Her karyotyping revealed 45,X. After diagnosis of Turner syndrome, growth Tel: +82-31-390-2351 hormone had been given for the treatment of short stature, and estradiol replacement was Fax: +82-31-390-2244 started at 12.7 years of age. Because SRY gene was positive, she was scheduled to perform E-mail: [email protected] This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http:// ISSN: 2287-1012(Print) creativecommons.org/licenses/by-nc/3.0) which permits unrestricted non-commercial use, distribution, and reproduction in any ISSN: 2287-1292(Online) medium, provided the original work is properly cited. ©2015 Annals of Pediatric Endocrinology & Metabolism Jung JY, et al. • Clinically Turner syndrome revealed pathologically MGD laparascopic gonadectomy at 14 years of age. dysgenetic ovarian stroma with whirling pattern, vas deference, On pelvic laparoscopy, the uterus and both fallopian tubes looked normal, but both gonads looked streak in appearance (Fig. 1). Both adnexa were removed. On pathologic exam, salpinx was observed with dysgenetic gonad (Fig. 2). The dysgenetic gonad had stroma of whirling pattern with primordial follicles resembling ovarian stroma (Fig. 2A) and clusters of Leydig cells with ill-defined boundary (Fig. 2B). Vas deference was seen as tubular structures surrounded by fibromuscular stroma in certain part of stroma (Fig. 3), and seminiferous tubules were found with surrounding tunica albugina (Fig. 4A). Sertoli cells and spermatogonia were seen in the seminiferous tubules without spermatogenesis (Fig. 4B). On the other side of adnexa, Fig. 3. Vas deference as tubular structure surrounded by fibromuscular stroma (H&E, x100). One part of dysgenetic gonad, tubular structure surrounded by thick fibromuscular stroma was confirmed to be vas deference consisting of simple cuboidal cells. * Fig. 1. Laparoscopic finding of uterus and gonads. Laparosacopic view of normal uterus (UT), both fallopian tubes (FT), and streak gonad (*). A (A) B (B) (A) (B) Fig. 4. The other part of dysgenetic gonad, tubular structures were seen with surrounding thick fibrous tissue (*) tunica albugina (A). In high power view of the Fig. 2. Dysgenetic gonad (H&E, x40). (A) Ovarian stroma with whirling pattern circle, tubular structures were confirmed to be typical seminiferous tubules with and primordial follicles (H&E, x200). (B) Clusters of Leydig cells with ill-defined intermingling Leydig cells (B). (A) Seminiferous tubules surrounded by tunica boundery (H&E, x400). albuginea (H&E, x40). (B) Sertoli cells and spermatognoia (H&E, x400). www.e-apem.org 227 Jung JY, et al. • Clinically Turner syndrome revealed pathologically MGD and Leydig cell cluster were also observed. Pathologic findings after prophylactic gonadectomy. SRY gene is a single-exon were compatible to mixed gonadal dysgeneis. gene (Yp11.3) that plays an important role as primary testis- determining gene in normal testis development15). Bianco et Discussion al.16) observed that temporal exposure of dysgenetic gonad to Y-chromosome sequences, especially SRY, could lead to a clinical This case is genetically Turner syndrome with karyotype of picture of hyperandrogenism in the gonadal microenvironment. 45,X, but pathologically mixed gonadal dysgeneis. The positive It is supposed that SRY expression is reinforcing the role of this SRY gene is an evidence of unrecognized Y material which was gene in the abnormal microenvironment of dysgenetic gonad, not found in karyotyping. as the main determinant of neoplastic progression, providing 17) Many studies demonstrated that 40%–60% of Turner pa- the cell with equipment to survive and proliferation . In tients were 45,X monosomy in blood lymphocytes, whereas conclusion, the detection of SRY gene in Turner syndrome is the remaining patients had a structurally abnormal X- or necessary to prevent the development of tumoral or nontumoral Y-chromosome or were mosaics with a second cell line contai- gonadal lesion, even if karyotyping using peripheral blood ning a normal or an abnormal sex chromosome7). Most MGD lymphocyte does not detect Y chromosme material. has mosaic 45,X/46,XY karyotype, but additional karyotypes including 45,X/47,XXY and 45,X/46,XY/47,XYY were Conflict of interest reported1). Our case revealed 45,X in standard karyotyping, but positive SRY was the hallmark of the presence of cryptic Y No potential conflict of interest relevant to this article was material. Generally, standard 30-cell karyotyping is performed reported. as recommended by the American College of Medical Genetics to identify at least 10% of mosaicism with 95% confidence8). The clinical phenotype may range from almost normal female References external genitalia with mild clitoromegaly, through ambiguous genitalia, to isolated hypospadias or normal male external 1. Sperling MA. Pediatric endocrinology. 3rd ed. Philadelphia: genitalia. Usually the internal genital ducts align with the nature Saunders/Elsevier, 2007:667. of ipsilateral gonad, with retention of a fallopian tube on the 2. Alvarez-Nava F, Soto M, Borjas L, Ortiz R, Rojas A, Marti- side adjacent to a severely dysgenetic streak gonad. The gonads nez S, et al. Molecular analysis of SRY gene in patients with are generally in combination of a well-formed testis on one side mixed gonadal dysgenesis. Ann Genet 2001;44:155-9. 1) and a streak dysgenetic gonad on the contralateral side . Our 3. Kocova M, Witchel SF, Nalesnik M, Lee PA, Dickman case showed no stigmata of Turner features, such as cubitus PS, MacGillivray MH, et al. Y chromosomal sequences valgus deformity, shield chest, knuckle sign and webbed neck. identified in gonadal tissue of two 45,X patients with Only she showed short stature and multiple freckles on the back Turner Syndrome. Endocr Pathol 1995;6:311-22. area. And she also showed normal female external genitalia in 4. Lobaccaro JM, Lumbroso S, Belon C, Medlej R, Berta spite of the dysgenetic gonads containing both ovarian and P, Sultan C. Genes of the Y chromosome and Turner testicular tissues. This might be explained by the predominance syndrome. Ann Endocrinol (Paris) 1994;54:323-9. of 45,X cell lines besides the presence of SRY preventing the 5. Oliveira RM, Verreschi IT, Lipay MV, Eca LP, Guedes AD, 9) development of testicular tissue . Bianco B. Y chromosome in Turner syndrome: review of Usually, 45,X Turner syndrome had streaky gonad or the literature. Sao Paulo Med J 2009;127:373-8. immature ovary. But our patient showed combination ovar- 6. Zelaya G, Lopez Marti JM, Marino R, Garcia de Davila MT, ian tissue including primordial follicles and testicular tissue Gallego MS. Gonadoblastoma in patients with Ullrich- with spermatogonia and seminiferous tubules. This form of Turner syndrome. Pediatr Dev Pathol 2015;18:117-21. gonadal dysgenesis is typically observed in a mosaic 45,X/46,XY 7.
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