Pure gonadal dysgenesis (Swyer syndrome) due to microdeletion in the SRY gene: a case report
-
Gül Yesiltepe Mutlu
,
Heves Kırmızıbekmez
Abstract
46,XY complete gonadal dysgenesis (Swyer syndrome) is a rare cause of disorder of sexual development. This syndrome is caused by a defect in the determination of sex during embryogenesis and is characterised with female external genitalia, normal or rudimentary uterus, and streak gonads, despite the presence of the 46,XY karyotype. Most of the studied cases presented with leak of secondary sex characteristics and primary amenorrhea during adolescence. Laboratory findings reveal hypergonadotropic hypogonadism. Herein we present the case of a female with a 46,XY karyotype who was admitted with delayed puberty and detected to have a microdeletion in the SRY gene and diagnosed to have Swyer syndrome. We highlight the importance of karyotype analysis in patients with delayed puberty and primary amenorrhea. Once the diagnosis of 46,XY complete gonadal dysgenesis is established, early laparoscopic removal of the dysgenetic gonads is crucial to prevent the development of gonadal malignancy.
References
1. Swyer GI. Male pseudohermaphroditism: a hitherto undescribed form. Br Med J 1955;2:709–12.10.1136/bmj.2.4941.709Suche in Google Scholar PubMed PubMed Central
2. Ostrer H. Sexual differentiation. Semin Reprod Med 2000;18: 41–9.10.1055/s-2000-13474Suche in Google Scholar PubMed
3. Hughes IA. The testes: disorders of sexual differentiation and puberty in the male. In: Sperling M, editor. Pediatric endocrinology. Philadelphia: Elsevier Science, 2008:662–85.Suche in Google Scholar
4. Veitia R, Ion A, Barbaux S, Jobling MA, Souleyreau N, et al. Mutations and sequence variants in the testis-determining region of the Y chromosome in individuals with a 46,XY female phenotype. Hum Genet 1997;99:648–52.10.1007/s004390050422Suche in Google Scholar PubMed
5. Lin L, Philibert P, Ferraz-de-Souza B, Kelberman D, Homfray T, et al. Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function. J Clin Endocrinol Metab 2007;92:991–9.10.1210/jc.2006-1672Suche in Google Scholar PubMed PubMed Central
6. Canto P, Vilchis F, Soderlund D, Reyes E, Mendez JP. A heterozygous mutation in the desert hedgehog gene in patients with mixed gonadal dysgenesis. Mol Hum Reprod 2005;11:833–6.10.1093/molehr/gah216Suche in Google Scholar PubMed
7. Domenice S, Corrêa RV, Costa EM, Nishi MY, Vilain E, et al. Mutations in the SRY, DAX1, SF1 and WNT4 genes in Brazilian sex-reversed patients. Braz J Med Biol Res 2004;37:145–50.10.1590/S0100-879X2004000100020Suche in Google Scholar
8. Sarafoglou K, Ostrer H. Familial sex reversal: a review. J Clin Endocrinol Metab 2000;85:483–93.10.1210/jcem.85.2.6418Suche in Google Scholar PubMed
9. Barbaro M, Oscarson M, Schoumans J, Staaf J, Ivarsson SA, et al. Isolated 46,XY gonadal dysgenesis in two sisters caused by a Xp21.2 interstitial duplication containing the DAX1 gene. J Clin Endocrinol Metab 2007;92:3305–13.10.1210/jc.2007-0505Suche in Google Scholar PubMed
10. Witchel SF, Lee PA. Ambiguous genitalia In: Sperling M, editor. Pediatric endocrinology. Philadelphia: Elsevier Science, 2008:127–64.Suche in Google Scholar
11. Adriana A, Gary D. Disorders of sexual differentiation. In: Lifshitz F, editor. Pediatric endocrinology. New York: Marcel Decker, 2003:319–45.Suche in Google Scholar
12. Anderson RA, Sharpe RM. Regulation of inhibin production in the human male and its clinical applications. Int J Androl 2000;23:136–44.10.1046/j.1365-2605.2000.00229.xSuche in Google Scholar PubMed
13. Carillo A, Damian M, Berkowitz G. Disorders of sexual differentiation. In: Lifshitz F, editor. Pediatric endocrinology. New York: Informa Healthcare USA Inc., 2007:365–90.Suche in Google Scholar
14. Berkowitz GD, Fechner PY, Zacur HW, Rock JA, Snyder HM, III, et al. Clinical and pathologic spectrum of 46, XY gonadal dysgenesis: its relevance to the understanding of sex differentiation. Medicine (Baltimore) 1991;70:375–83.10.1097/00005792-199111000-00003Suche in Google Scholar PubMed
15. Grumbach M, Hughes IA, Conte FA. Disorders of sex differentiation. In: Larsen PR, Kronenbeg HM, Melmed S, Polonsky KM, editors. Williams textbook of endocrinology, 10th ed. Philadelphia: W.B. Saunders, 2003:842–1002.Suche in Google Scholar
16. Takai Y, Tsutsumi O, Harada I, Morita Y, Momoeda M, et al. Case of XY pure gonadal dysgenesis with 46, XYp-/47, XXYp-karyotype whose gonadoblastoma was removed laparoscopically. Gynecol Obstet Invest 2000;50:166–9.10.1159/000010318Suche in Google Scholar
17. Uehara S, Funato T, Yaegashi N, Suziki H, Sato J, et al. SRY mutation and tumor formation on the gonads of XY pure gonadal dysgenesis patients. Cancer Genet Cytogenet 1999; 1113:78–84.10.1016/S0165-4608(99)00010-2Suche in Google Scholar
18. Poláková M, Alexander D, Sulc J, Zetová L, Vlk R, et al. Pregnancy and delivery in a patient with pure 46,XY karyotype. Summary of actual knowledge about XY women. Ceska Gynekol 2013;78:443–7.Suche in Google Scholar
©2015 by De Gruyter
Artikel in diesem Heft
- Frontmatter
- Highlight: Childhood Craniopharyngioma
- Selected papers from the 3rd International Multidisciplinary Postgraduate Course, April 24–27, 2014
- Childhood craniopharyngioma – current status and recent perspectives in diagnostics and treatment
- The importance of interdisciplinary communication with patients about complex, chronic illnesses: our experiences as parents of a child with a craniopharyngioma
- Adamantinomatous craniopharyngioma: pathology, molecular genetics and mouse models
- Endocrine aspects and sequel in patients with craniopharyngioma
- Surgery for pediatric craniopharyngiomas: is less more?
- Eating behavior, weight problems and eating disorders in 101 long-term survivors of childhood-onset craniopharyngioma
- Carbohydrate-lipid profile and use of metformin with micronized fenofibrate in reducing metabolic consequences of craniopharyngioma treatment in children: single institution experience
- Effects of T3 treatment on brown adipose tissue and energy expenditure in a patient with craniopharyngioma and hypothalamic obesity
- Hypothalamic obesity after treatment for craniopharyngioma: the importance of the home environment
- Review article
- Association study of TAC3 and TACR3 gene polymorphisms with idiopathic precocious puberty in Chinese girls
- Images in pediatric endocrinology
- Intestinal invagination in diabetic ketoacidosis: case report
- Original articles
- Managing incidental findings and disclosure of results in a paediatric research cohort – the LIFE Child Study cohort
- The heterogeneity of hyperinsulinaemic hypoglycaemia in 19 patients with Beckwith-Wiedemann syndrome due to KvDMR1 hypomethylation
- Gender differences and age-related changes in body fat mass in Tibetan children and teenagers: an analysis by the bioelectrical impedance method
- A study of genes involved in adipocyte differentiation
- Initiation of growth hormone therapy in idiopathic short stature: do gender differences exist?
- The influence of puberty on vitamin D status in obese children and the possible relation between vitamin D deficiency and insulin resistance
- Growth failure associated with early neglect: pilot comparison of neglected US children and international adoptees
- Effect of growth hormone deficiency on brain MRI findings among children with growth restrictions
- Variability of lipid and lipoprotein concentrations during puberty in Brazilian boys
- Skin advanced glycation endproducts are elevated at onset of type 1 diabetes in youth
- Can optical coherence tomography predict early retinal microvascular pathology in type 1 diabetic adolescents without minimal diabetic retinopathy? A single-centre study
- Decreased levels of homoarginine and asymmetric dimethylarginine in children with type 1 diabetes: associations with cardiovascular risk factors but no effect by atorvastin
- Influence of catch-up growth on abdominal fat distribution in very low birth weight children – cohort study
- Thyrotoxic, hypokalemic periodic paralysis (THPP) in adolescents
- Pulmonary function in children with type 1 diabetes mellitus
- Identification of deletions in children with congenital hypothyroidism and thyroid dysgenesis with the use of multiplex ligation-dependent probe amplification
- Effect of l-thyroxine supplementation on infants with transient hypothyroxinemia of prematurity at 18 months of corrected age: randomized clinical trial
- Vitamin D-containing supplements for children between 1–3 years of age: Are they essential for bone health?
- Anti-Mullerian hormone levels in American girls by age and race/ethnicity
- The effect of tailoring of cornstarch intake on stature in children with glycogen storage disease type III
- Thyroid disease in Chinese girls with Turner syndrome
- Patient reports
- Pure gonadal dysgenesis (Swyer syndrome) due to microdeletion in the SRY gene: a case report
- Hypophosphatemic rickets caused by a novel splice donor site mutation and activation of two cryptic splice donor sites in the PHEX gene
- Novel heterozygous IGF1R mutation in two brothers with developing impaired glucose tolerance
- A case of pediatric ectopic thyroid in lateral lymph nodes
- Hyperostosis-hyperphosphatemia syndrome (HHS): report of two cases with a recurrent mutation and review of the literature
- Needle detachment from the Sure-T® infusion set in two young children with diabetes mellitus (DM) treated with continuous subcutaneous insulin infusion (CSII) and unexplained hyperglycaemia
- Familial dysalbuminemic hyperthyroxinemia in a 4-year-old girl with hyperactivity, palpitations and advanced dental age: how gold standard assays may be misleading
Artikel in diesem Heft
- Frontmatter
- Highlight: Childhood Craniopharyngioma
- Selected papers from the 3rd International Multidisciplinary Postgraduate Course, April 24–27, 2014
- Childhood craniopharyngioma – current status and recent perspectives in diagnostics and treatment
- The importance of interdisciplinary communication with patients about complex, chronic illnesses: our experiences as parents of a child with a craniopharyngioma
- Adamantinomatous craniopharyngioma: pathology, molecular genetics and mouse models
- Endocrine aspects and sequel in patients with craniopharyngioma
- Surgery for pediatric craniopharyngiomas: is less more?
- Eating behavior, weight problems and eating disorders in 101 long-term survivors of childhood-onset craniopharyngioma
- Carbohydrate-lipid profile and use of metformin with micronized fenofibrate in reducing metabolic consequences of craniopharyngioma treatment in children: single institution experience
- Effects of T3 treatment on brown adipose tissue and energy expenditure in a patient with craniopharyngioma and hypothalamic obesity
- Hypothalamic obesity after treatment for craniopharyngioma: the importance of the home environment
- Review article
- Association study of TAC3 and TACR3 gene polymorphisms with idiopathic precocious puberty in Chinese girls
- Images in pediatric endocrinology
- Intestinal invagination in diabetic ketoacidosis: case report
- Original articles
- Managing incidental findings and disclosure of results in a paediatric research cohort – the LIFE Child Study cohort
- The heterogeneity of hyperinsulinaemic hypoglycaemia in 19 patients with Beckwith-Wiedemann syndrome due to KvDMR1 hypomethylation
- Gender differences and age-related changes in body fat mass in Tibetan children and teenagers: an analysis by the bioelectrical impedance method
- A study of genes involved in adipocyte differentiation
- Initiation of growth hormone therapy in idiopathic short stature: do gender differences exist?
- The influence of puberty on vitamin D status in obese children and the possible relation between vitamin D deficiency and insulin resistance
- Growth failure associated with early neglect: pilot comparison of neglected US children and international adoptees
- Effect of growth hormone deficiency on brain MRI findings among children with growth restrictions
- Variability of lipid and lipoprotein concentrations during puberty in Brazilian boys
- Skin advanced glycation endproducts are elevated at onset of type 1 diabetes in youth
- Can optical coherence tomography predict early retinal microvascular pathology in type 1 diabetic adolescents without minimal diabetic retinopathy? A single-centre study
- Decreased levels of homoarginine and asymmetric dimethylarginine in children with type 1 diabetes: associations with cardiovascular risk factors but no effect by atorvastin
- Influence of catch-up growth on abdominal fat distribution in very low birth weight children – cohort study
- Thyrotoxic, hypokalemic periodic paralysis (THPP) in adolescents
- Pulmonary function in children with type 1 diabetes mellitus
- Identification of deletions in children with congenital hypothyroidism and thyroid dysgenesis with the use of multiplex ligation-dependent probe amplification
- Effect of l-thyroxine supplementation on infants with transient hypothyroxinemia of prematurity at 18 months of corrected age: randomized clinical trial
- Vitamin D-containing supplements for children between 1–3 years of age: Are they essential for bone health?
- Anti-Mullerian hormone levels in American girls by age and race/ethnicity
- The effect of tailoring of cornstarch intake on stature in children with glycogen storage disease type III
- Thyroid disease in Chinese girls with Turner syndrome
- Patient reports
- Pure gonadal dysgenesis (Swyer syndrome) due to microdeletion in the SRY gene: a case report
- Hypophosphatemic rickets caused by a novel splice donor site mutation and activation of two cryptic splice donor sites in the PHEX gene
- Novel heterozygous IGF1R mutation in two brothers with developing impaired glucose tolerance
- A case of pediatric ectopic thyroid in lateral lymph nodes
- Hyperostosis-hyperphosphatemia syndrome (HHS): report of two cases with a recurrent mutation and review of the literature
- Needle detachment from the Sure-T® infusion set in two young children with diabetes mellitus (DM) treated with continuous subcutaneous insulin infusion (CSII) and unexplained hyperglycaemia
- Familial dysalbuminemic hyperthyroxinemia in a 4-year-old girl with hyperactivity, palpitations and advanced dental age: how gold standard assays may be misleading
