Ovotesticular disorder of sex development with unusual karyotype: patient report
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Georgette Beatriz Paula
,
Letícia Esposito Sewaybricker
Abstract
Background: Ovotesticular disorder of sex development (OT-DSD) (true hermaphroditism) is an anatomopathological diagnosis based on the findings of testicular and ovarian tissues in the same subject, in the same gonad (ovotestis), or in separate gonads. OT-DSD is a rare cause of sex ambiguity, and the most common karyotype is 46,XX; mosaics and chimeras are found only in 10%–20%.
Aim: To report a case of an OT-DSD patient with a rare karyotype constitution.
Case report: A 2-month-old child with male sex assignment was referred to our clinic for investigation of sex ambiguity. He was the second child of healthy unrelated parents; pregnancy and labor were uneventful. On physical examination, he had a 2.3-cm phallus and perineal hypospadias (Prader grade III); the right gonad was in the labioscrotal fold and the left was found in the inguinal channel. Karyotype was 46,XX/47,XXY/48,XXYY. Anatomopathological examination of gonads revealed right testis and left ovotestis. The male sex assignment was maintained; the child underwent left gonadectomy, removal of Mullerian structures and urethroplasty.
Conclusion: A thorough revision of literature revealed a single case of OT-DSD with the same chromosome constitution. Gonadal biopsy is necessary to establish diagnosis in cases of sex chromosome mosaicism.
References
1. Hughes IA, Houk C, Ahmed SF, Lee PA, Group LC. Consensus statement on management of intersex disorders. Arch Dis Child 2006;91:554–63.10.1136/adc.2006.098319Suche in Google Scholar
2. Blackless M, Charuvastra A, Derryck A, Fausto-Sterling A, Lauzanne K, et al. How sexually dimorphic are we? Review and synthesis. Am J Hum Biol 2000;12:151–66.10.1002/(SICI)1520-6300(200003/04)12:2<151::AID-AJHB1>3.0.CO;2-FSuche in Google Scholar
3. Krob G, Braun A, Kuhnle U. True hermaphroditism: geographical distribution, clinical findings, chromosomes and gonadal histology. Eur J Pediatr 1994;153:2–10.10.1007/BF02000779Suche in Google Scholar
4. Guerra-Júnior G, de Mello MP, Assumpção JG, Morcillo AM, Marini SH, et al. True hermaphrodites in the southeastern region of Brazil: a different cytogenetic and gonadal profile. J Pediatr Endocrinol Metab 1998;11:519–24.Suche in Google Scholar
5. Wiersma R. True hermaphroditism in southern Africa: the clinical picture. Pediatr Surg Int 2004;20:363–8.10.1007/s00383-004-1200-0Suche in Google Scholar
6. Damiani D, Guedes DR, Damiani D, Setian N, Maciel-Guerra AT, et al. True hermaphroditism: experience with 36 patients. Arq Bras Endocrinol Metab 2005;49:71–8.10.1590/S0004-27302005000100009Suche in Google Scholar
7. Verkauskas G, Jaubert F, Lortat-Jacob S, Malan V, Thibaud E, et al. The long-term follow-up of 33 cases of true hermaphroditism: a 40-year experience with conservative gonadal surgery. J Urol 2007;177:726–31.10.1016/j.juro.2006.10.003Suche in Google Scholar
8. Matsui F, Shimada K, Matsumoto F, Itesako T, Nara K, et al. Long-term outcome of ovotesticular disorder of sex development: a single center experience. Int J Urol 2011;18:231–6.10.1111/j.1442-2042.2010.02700.xSuche in Google Scholar
9. Van Niekerk WA, Retief AE. The gonads of human true hermaphrodites. Hum Genet 1981;58:117–22.10.1007/BF00284158Suche in Google Scholar
10. Shopfner CE. Genitography in intersexual states. Radiology 1964;82:664–74.10.1148/82.4.664Suche in Google Scholar
11. Hassold T, Abruzzo M, Adkins K, Griffin D, Merrill M, et al. Human aneuploidy: incidence, origin, and etiology. Environ Mol Mutagen 1996;28:167–75.10.1002/(SICI)1098-2280(1996)28:3<167::AID-EM2>3.0.CO;2-BSuche in Google Scholar
12. Griffin DK. The incidence, origin, and etiology of aneuploidy. Int Rev Cytol 1996;167:263–96.10.1016/S0074-7696(08)61349-2Suche in Google Scholar
13. Hall H, Hunt P, Hassold T. Meiosis and sex chromosome aneuploidy: how meiotic errors cause aneuploidy; how aneuploidy causes meiotic errors. Curr Opin Genet Dev 2006;16:323–9.10.1016/j.gde.2006.04.011Suche in Google Scholar PubMed
14. Robinson A, Lubs HA, Nielsen J, Sørensen K. Summary of clinical findings: profiles of children with 47,XXY, 47,XXX and 47,XYY karyotypes. Birth Defects Orig Artic Ser 1979;15:261–6.Suche in Google Scholar
15. Klinefelter HF, Reifenstein EC, Albright F. Syndrome characterized by gynecomastia, aspermatogenesis without a-leydigism, and increased excretion of follicle-stimulating hormone. J Clin Endocrinol Metab 1942;2:615–27.10.1210/jcem-2-11-615Suche in Google Scholar
16. Tartaglia N, Davis S, Hench A, Nimishakavi S, Beauregard R, et al. A new look at XXYY syndrome: medical and psychological features. Am J Med Genet A 2008;146A:1509–22.10.1002/ajmg.a.32366Suche in Google Scholar PubMed PubMed Central
17. Morris JK, Alberman E, Scott C, Jacobs P. Is the prevalence of Klinefelter syndrome increasing? Eur J Hum Genet 2008;16:163–70.10.1038/sj.ejhg.5201956Suche in Google Scholar PubMed
18. Groth KA, Skakkebæk A, Høst C, Gravholt CH, Bojesen A. Clinical review: Klinefelter syndrome – a clinical update. J Clin Endocrinol Metab 2013;98:20–30.10.1210/jc.2012-2382Suche in Google Scholar PubMed
19. Tincani BJ, Mascagni BR, Pinto RD, Guaragna-Filho G, Castro CC, et al. Klinefelter syndrome: an unusual diagnosis in pediatric patients. J Pediatr (Rio J) 2012;88:323–7.10.2223/JPED.2208Suche in Google Scholar PubMed
20. Bojesen A, Juul S, Gravholt CH. Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry study. J Clin Endocrinol Metab 2003;88:622–6.10.1210/jc.2002-021491Suche in Google Scholar PubMed
21. Nieschlag E. Klinefelter syndrome: the commonest form of hypogonadism, but often overlooked or untreated. Dtsch Ärztebl Int 2013;110:347–53.Suche in Google Scholar
22. Ozsu E, Mutlu GY, Cizmecioglu FM, Ekingen G, Muezzinoglu B, et al. Ovotesticular disorder of sexual development and rare 46,XX/47,XXY karyotype. J Pediatr Endocrinol Metab 2013;26:789–91.10.1515/jpem-2012-0386Suche in Google Scholar PubMed
23. Sano K, Terashima K, Tanaka Y, Sasaki Y. [Four cases of true hermaphroditism]. Hinyokika Kiyo 1995;41:73–7.Suche in Google Scholar
24. Mittwoch PU. Males, females and hermaphrodites. Ann Hum Genet 1986;50:103–21.10.1111/j.1469-1809.1986.tb01029.xSuche in Google Scholar PubMed
25. Pleskacova J, Hersmus R, Oosterhuis JW, Setyawati BA, Faradz SM, et al. Tumor risk in disorders of sex development. Sex Dev 2010;4:259–69.10.1159/000314536Suche in Google Scholar PubMed
26. Schultz BA, Roberts S, Rodgers A, Ataya K. Pregnancy in true hermaphrodites and all male offspring to date. Obstet Gynecol 2009;113(Pt 2):534–6.10.1097/AOG.0b013e3181866456Suche in Google Scholar PubMed
©2015 by De Gruyter
Artikel in diesem Heft
- Frontmatter
- Highlight: Obesity
- Childhood obesity at the crossroads
- Obesogenic environments: environmental approaches to obesity prevention
- Childhood obesity and eating behaviour
- Hypothalamic obesity in children: pathophysiology to clinical management
- The reliability of body mass index in the diagnosis of obesity and metabolic risk in children
- Determining abdominal obesity cut-offs and relevant risk factors for anthropometric indices in Turkish children and adolescents
- The effect of body mass index on blood pressure varies by race among obese children
- Insulin secretion response during oral glucose tolerance test is related to low cardiorespiratory fitness in obese adolescents
- Is there a relationship between cardiovascular risk factors and dehydroepiandrosterone sulfate levels in childhood obesity?
- The effect of lifestyle change and metformin therapy on serum arylesterase and paraoxonase activity in obese children
- Childhood obesity, thyroid function, and insulin resistance – is there a link? A longitudinal study
- Associations between IGF-I, IGF-binding proteins and bone turnover markers in prepubertal obese children
- Osteocalcin is inversely associated with adiposity and leptin in adolescent boys
- Association between cardiovascular risk factors and carotid intima-media thickness in prepubertal Brazilian children
- Insulin resistance and cardiometabolic risk factors in obese children and adolescents: a hierarchical approach
- The role of apolipoprotein E polymorphism in improving dyslipidemia in obese adolescents following physical exercise and National Cholesterol Education Program Step II intervention
- Review article
- Is ultrasound useful in the diagnosis of adolescents with polycystic ovary syndrome?
- Original articles
- IGF-II expression and methylation in small for gestational age infants
- Early screening of FTO and MC4R variants in newborns of Greek origin
- Pitfalls in hormonal diagnosis of 17-beta hydroxysteroid dehydrogenase III deficiency
- The prevalence of vitamin D deficiency among schoolchildren: a cohort study from Xinxiang, China
- Management of testosterone therapy in adolescents and young men with hypogonadism: are we following adult clinical practice guidelines?
- Vitamin D status and its associations with components of metabolic syndrome in healthy children
- Metformin treatment improves weight and dyslipidemia in children with metabolic syndrome
- Patient reports
- Hypothyroidism caused by the combination of two heterozygous mutations: one in the TSH receptor gene the other in the DUOX2 gene
- Ovarian carcinoma in a 14-year-old with classical salt-wasting congenital adrenal hyperplasia and bilateral adrenalectomy
- An asymptomatic mother diagnosed with 3-methylcrotonyl-CoA carboxylase deficiency after newborn screening
- A new missense mutation in the BCKDHB gene causes the classic form of maple syrup urine disease (MSUD)
- Ovotesticular disorder of sex development with unusual karyotype: patient report
- First case report of medium-chain acyl-coenzyme A dehydrogenase deficiency in China
- Virilizing adrenal oncocytoma in a 9-year-old girl: rare neoplasm with an intriguing postoperative course
- Unexpected clinical features in a female patient with proopiomelanocortin (POMC) deficiency
- Sirolimus therapy in a patient with severe hyperinsulinaemic hypoglycaemia due to a compound heterozygous ABCC8 gene mutation
- Cross-reactivity of adrenal steroids with aldosterone may prevent the accurate diagnosis of congenital adrenal hyperplasia
- Hyperthyroidism hidden by congenital central hypoventilation syndrome
- The use of pamidronate for acute vitamin D intoxication, clinical experience with three cases
- Chondrocalcinosis related to familial hypomagnesemia with hypercalciuria and nephrocalcinosis
- Cushing syndrome related to leukemic infiltration of the central nervous system
- Hashimoto’s encephalopathy: a rare pediatric brain disease
- Short communication
- A novel ABCD1 gene mutation in a Chinese patient with X-linked adrenoleukodystrophy
Artikel in diesem Heft
- Frontmatter
- Highlight: Obesity
- Childhood obesity at the crossroads
- Obesogenic environments: environmental approaches to obesity prevention
- Childhood obesity and eating behaviour
- Hypothalamic obesity in children: pathophysiology to clinical management
- The reliability of body mass index in the diagnosis of obesity and metabolic risk in children
- Determining abdominal obesity cut-offs and relevant risk factors for anthropometric indices in Turkish children and adolescents
- The effect of body mass index on blood pressure varies by race among obese children
- Insulin secretion response during oral glucose tolerance test is related to low cardiorespiratory fitness in obese adolescents
- Is there a relationship between cardiovascular risk factors and dehydroepiandrosterone sulfate levels in childhood obesity?
- The effect of lifestyle change and metformin therapy on serum arylesterase and paraoxonase activity in obese children
- Childhood obesity, thyroid function, and insulin resistance – is there a link? A longitudinal study
- Associations between IGF-I, IGF-binding proteins and bone turnover markers in prepubertal obese children
- Osteocalcin is inversely associated with adiposity and leptin in adolescent boys
- Association between cardiovascular risk factors and carotid intima-media thickness in prepubertal Brazilian children
- Insulin resistance and cardiometabolic risk factors in obese children and adolescents: a hierarchical approach
- The role of apolipoprotein E polymorphism in improving dyslipidemia in obese adolescents following physical exercise and National Cholesterol Education Program Step II intervention
- Review article
- Is ultrasound useful in the diagnosis of adolescents with polycystic ovary syndrome?
- Original articles
- IGF-II expression and methylation in small for gestational age infants
- Early screening of FTO and MC4R variants in newborns of Greek origin
- Pitfalls in hormonal diagnosis of 17-beta hydroxysteroid dehydrogenase III deficiency
- The prevalence of vitamin D deficiency among schoolchildren: a cohort study from Xinxiang, China
- Management of testosterone therapy in adolescents and young men with hypogonadism: are we following adult clinical practice guidelines?
- Vitamin D status and its associations with components of metabolic syndrome in healthy children
- Metformin treatment improves weight and dyslipidemia in children with metabolic syndrome
- Patient reports
- Hypothyroidism caused by the combination of two heterozygous mutations: one in the TSH receptor gene the other in the DUOX2 gene
- Ovarian carcinoma in a 14-year-old with classical salt-wasting congenital adrenal hyperplasia and bilateral adrenalectomy
- An asymptomatic mother diagnosed with 3-methylcrotonyl-CoA carboxylase deficiency after newborn screening
- A new missense mutation in the BCKDHB gene causes the classic form of maple syrup urine disease (MSUD)
- Ovotesticular disorder of sex development with unusual karyotype: patient report
- First case report of medium-chain acyl-coenzyme A dehydrogenase deficiency in China
- Virilizing adrenal oncocytoma in a 9-year-old girl: rare neoplasm with an intriguing postoperative course
- Unexpected clinical features in a female patient with proopiomelanocortin (POMC) deficiency
- Sirolimus therapy in a patient with severe hyperinsulinaemic hypoglycaemia due to a compound heterozygous ABCC8 gene mutation
- Cross-reactivity of adrenal steroids with aldosterone may prevent the accurate diagnosis of congenital adrenal hyperplasia
- Hyperthyroidism hidden by congenital central hypoventilation syndrome
- The use of pamidronate for acute vitamin D intoxication, clinical experience with three cases
- Chondrocalcinosis related to familial hypomagnesemia with hypercalciuria and nephrocalcinosis
- Cushing syndrome related to leukemic infiltration of the central nervous system
- Hashimoto’s encephalopathy: a rare pediatric brain disease
- Short communication
- A novel ABCD1 gene mutation in a Chinese patient with X-linked adrenoleukodystrophy
