A novel mutation of AMH in three siblings with persistent Mullerian duct syndrome
-
Özlem Nalbantoğlu
,
Hüseyin Anıl Korkmaz
Abstract
Background: Persistent Mullerian duct syndrome (PMDS) is a rare form of male 46,XY disorder of sex development characterized by the presence of Mullerian duct derivatives in otherwise phenotypically normal males.
Aim: To report a novel mutation of the anti-Mullerian hormone (AMH) gene in two of three siblings with PMDS.
Cases: A 2-year-old male presented with recurrent left-sided inguinal hernia and absence of right testis. Laparoscopic surgery disclosed Mullerian duct derivates and transverse testicular ectopia. AMH level was found to be low [1.6 ng/mL (normal range 7.4–373.1), 11.42 pmol/L (normal range 52.8–2663.9)]. His 15-year-old and 7-year-old elder brothers were invited, and bilateral undescended testes were noted upon examination. Female reproductive structures were identified during surgery but no transverse testicular ectopia. All cases had 46,XY karyotype. Genetic analyses could be done in two of them and a unique homozygous T to C base substitution was found at position 1591 in the AMH gene.
Conclusion: This is the first report of the AMH gene mutation which is referred as p.Y531H (c.1591T>C), which resulted in different phenotypes of PMDS in three siblings.
Acknowledgments
We would like to thank Dr. S. Ceylaner and Dr. K. Karaer (Intergen Genetics Center, Ankara, Turkey) for the molecular analyses.
References
1. Neeraj P, Anuj K, Bhawna N. Persistent Mullerian duct syndrome. Indian J Pathol Microbiol 2009;52:546–8.10.4103/0377-4929.56160Suche in Google Scholar PubMed
2. La Marca A, Broekmans FJ, Volpe A, Fauser BC, Macklon NS. ESHRE Special Interest Group for Reproductive Endocrinology–AMH Round Table: anti-Mullerian hormone (AMH): what do we still need to know? Hum Reproduct 2009;4:2264–75.10.1093/humrep/dep210Suche in Google Scholar PubMed
3. Rey RA, Grinspon RP. Normal male sexual differentiation and aetiology of disorders of sex development. Best Pract Res Clin Endocrinol Metab 2011;25:221–38.10.1016/j.beem.2010.08.013Suche in Google Scholar PubMed
4. Josso N, Belville C, di Clemente N, Picard JY. AMH and AMH receptor defects in persistent Müllerian duct syndrome. Hum Reprod Update 2005;11:351–6.10.1093/humupd/dmi014Suche in Google Scholar PubMed
5. di Clemente N, Belville C. Anti-Müllerian hormone receptor defect. Best Pract Res Clin Endocrinol Metab 2006;20:599–610.10.1016/j.beem.2006.09.004Suche in Google Scholar PubMed
6. Berkmen F. Persistent mullerian duct syndrome with or without transverse testicular ectopia and testis tumours. Br J Urol 1997;79:122–6.10.1046/j.1464-410X.1997.27226.xSuche in Google Scholar
7. Shamim M. Persistent Mullerian duct syndrome with transverse testicular ectopia presenting in an irreducible recurrent inguinal hernia. J Pak Med Assoc 2007;57:421–3.Suche in Google Scholar
8. El-Gohary MA. Laparoscopic management of persistent müllerian duct syndrome. Pediatr Surg Int 2003;19:533–6.10.1007/s00383-003-0984-7Suche in Google Scholar PubMed
9. Manjunath BG, Shenoy VG, Raj P. Persistent müllerian duct syndrome: how to deal with the müllerian duct remnants – a review. Indian J Surg 2010;72:16–9.10.1007/s12262-010-0003-xSuche in Google Scholar PubMed PubMed Central
10. Bergada I, Milani C, Bedecarras P, Andreone L, Ropelato MG, et al. Time course of the serum gonadotropin surge, inhibins, and anti-Mullerian hormone in normal newborn males during the first month of life. J Clin Endocrinol Metab 2006;91:4092–8.10.1210/jc.2006-1079Suche in Google Scholar PubMed
11. Aksglaede L, Sorensen K, Boas M, Mouritsen A, Hagen CP, et al. Changes in anti-Müllerian hormone (AMH) throughout the life span: a population-based study of 1027 healthy males from birth (cord blood) to the age of 69 years. J Clin Endocrinol Metab 2010;95:5357–64.10.1210/jc.2010-1207Suche in Google Scholar PubMed
12. Elchuri SV, Patterson BC, Brown MR, Buchanan I, Mertens AC, et al. Anti-Mullerian hormone levels in American girls by age and race/ethnicity. J Pediatr Endocrinol Metab 2015;28:189–93.10.1515/jpem-2014-0242Suche in Google Scholar PubMed
13. Josso N, Rey R, Picard JY. Testicular anti-Mullerian hormone: clinical applications in DSD. Semin Reprod Med 2012;30:364–73.10.1055/s-0032-1324719Suche in Google Scholar PubMed
14. Belville C, Van Vlijmen H, Ehrenfels C, Pepinsky B, Rezaie AR, et al. Mutations of the anti-Mullerian hormone gene in patients with persistent Mullerian duct syndrome: biosynthesis, secretion, and processing of the abnormal proteins and analysis using a three dimensional model. Mol Endocrinol 2004;18:708–21.10.1210/me.2003-0358Suche in Google Scholar PubMed
15. Telli O, Gökçe MI, Haciyev P, Soygür T, Burgu B. Transverse testicular ectopia: a rare presentation with persistent müllerian duct syndrome. J Clin Res Pediatr Endocrinol 2014;6:180–2.10.4274/jcrpe.1479Suche in Google Scholar
16. Alp BF, Demirer Z, Gürağaç A, Babacan O, Sarı E, et al. Persistent Mullerian duct syndrome with transverse testicular ectopia and seminoma. Int Urol Nephrol 2014;46:1557–62.10.1007/s11255-014-0667-4Suche in Google Scholar PubMed
17. Renu D, Rao BG, Ranganath K, Namitha. Persistent Mullerian duct syndrome. Indian J Radiol Imaging 2010;20:72–4.10.4103/0971-3026.59761Suche in Google Scholar PubMed PubMed Central
18. Mazen I, Abdel Hamid M, El-Gammal M, Aref A, Amr K. AMH gene mutations in two Egyptian families with persistent müllerian duct syndrome. Sex Dev 2011;5:277–80.10.1159/000334854Suche in Google Scholar PubMed
©2015 by De Gruyter
Artikel in diesem Heft
- Frontmatter
- Highlight: Turner syndrome
- Turner syndrome – working together with patients and their families
- Turner syndrome patients with bicuspid aortic valves and renal malformations exhibit abnormal expression of X-linked inhibitor of apoptosis protein (XIAP)
- Inhibin B in adolescents and young adults with Turner syndrome
- Mode of initial presentation and chromosomal abnormalities in Irish patients with Turner syndrome: a single-centre experience
- Retrospective evaluation of pubertal development and linear growth of girls with Turner Syndrome treated with oral and transdermal estrogen
- Turner syndrome in Albania and the efficacy of its treatment with growth hormone
- Review articles
- The relation of vitamin D status with metabolic syndrome in childhood and adolescence: an update
- Putting the pieces together: cryptorchidism – do we know everything?
- Original articles
- Investigation of androgen receptor gene mutations in a series of 21 patients with 46,XY disorders of sex development
- Molecular diagnosis of maturity-onset diabetes of the young (MODY) in Turkish children by using targeted next-generation sequencing
- Association of physical activity level with depression, anxiety, and quality of life in children with type 1 diabetes mellitus
- Neonatal diabetes in Ukraine: incidence, genetics, clinical phenotype and treatment
- The effect of intraoperative administration of dexamethasone for PONV prophylaxis on perioperative blood glucose level in obese and normal weight children
- Are obesity and metabolic syndrome associated with plasma adropin levels in children?
- Carnitine insufficiency in children with inborn errors of metabolism: prevalence and treatment efficacy
- Comparison of energy expenditure, body composition, metabolic disorders, and energy intake between obese children with a history of craniopharyngioma and children with multifactorial obesity
- Effect of serum cholesterol on bone mineral density in normal-weight children and adolescents
- Assessment of bone turnover markers and bone mineral density in normal short boys
- Long-term treatment for hyperphenylalaninemia and phenylketonuria: a risk for nutritional vitamin B12 deficiency?
- Risk factors affecting the development of nephrocalcinosis, the most common complication of hypophosphatemic rickets
- Children with hyperthyroidism younger than age 7 require higher mg/kg doses of methimazole to normalize free T4 compared to older children
- Effects of bisphosphonates to treat osteoporosis in children with cerebral palsy: a meta-analysis
- AMH levels at central precocious puberty and premature thelarche: is it a parameter?
- Validating Paediatric Morphometrics: body proportion measurement using photogrammetric anthropometry
- Treatment of central precocious puberty and early puberty with GnRH analog in girls with Williams-Beuren syndrome
- Short communication
- Pilot study on the dietary habits and lifestyles of girls with idiopathic precocious puberty from the city of Rome: potential impact of exposure to flame retardant polybrominated diphenyl ethers
- Patient reports
- Hypomagnesemia due to two novel TRPM6 mutations
- A novel mutation of AMH in three siblings with persistent Mullerian duct syndrome
- Kocher-Debré-Semelaigne syndrome with rhabdomyolysis and increased creatinine
- Anaphylaxis to gonadorelin acetate in a girl with central precocious puberty
- Efficacy and safety of sirolimus in a neonate with persistent hypoglycaemia following near-total pancreatectomy for hyperinsulinaemic hypoglycaemia
Artikel in diesem Heft
- Frontmatter
- Highlight: Turner syndrome
- Turner syndrome – working together with patients and their families
- Turner syndrome patients with bicuspid aortic valves and renal malformations exhibit abnormal expression of X-linked inhibitor of apoptosis protein (XIAP)
- Inhibin B in adolescents and young adults with Turner syndrome
- Mode of initial presentation and chromosomal abnormalities in Irish patients with Turner syndrome: a single-centre experience
- Retrospective evaluation of pubertal development and linear growth of girls with Turner Syndrome treated with oral and transdermal estrogen
- Turner syndrome in Albania and the efficacy of its treatment with growth hormone
- Review articles
- The relation of vitamin D status with metabolic syndrome in childhood and adolescence: an update
- Putting the pieces together: cryptorchidism – do we know everything?
- Original articles
- Investigation of androgen receptor gene mutations in a series of 21 patients with 46,XY disorders of sex development
- Molecular diagnosis of maturity-onset diabetes of the young (MODY) in Turkish children by using targeted next-generation sequencing
- Association of physical activity level with depression, anxiety, and quality of life in children with type 1 diabetes mellitus
- Neonatal diabetes in Ukraine: incidence, genetics, clinical phenotype and treatment
- The effect of intraoperative administration of dexamethasone for PONV prophylaxis on perioperative blood glucose level in obese and normal weight children
- Are obesity and metabolic syndrome associated with plasma adropin levels in children?
- Carnitine insufficiency in children with inborn errors of metabolism: prevalence and treatment efficacy
- Comparison of energy expenditure, body composition, metabolic disorders, and energy intake between obese children with a history of craniopharyngioma and children with multifactorial obesity
- Effect of serum cholesterol on bone mineral density in normal-weight children and adolescents
- Assessment of bone turnover markers and bone mineral density in normal short boys
- Long-term treatment for hyperphenylalaninemia and phenylketonuria: a risk for nutritional vitamin B12 deficiency?
- Risk factors affecting the development of nephrocalcinosis, the most common complication of hypophosphatemic rickets
- Children with hyperthyroidism younger than age 7 require higher mg/kg doses of methimazole to normalize free T4 compared to older children
- Effects of bisphosphonates to treat osteoporosis in children with cerebral palsy: a meta-analysis
- AMH levels at central precocious puberty and premature thelarche: is it a parameter?
- Validating Paediatric Morphometrics: body proportion measurement using photogrammetric anthropometry
- Treatment of central precocious puberty and early puberty with GnRH analog in girls with Williams-Beuren syndrome
- Short communication
- Pilot study on the dietary habits and lifestyles of girls with idiopathic precocious puberty from the city of Rome: potential impact of exposure to flame retardant polybrominated diphenyl ethers
- Patient reports
- Hypomagnesemia due to two novel TRPM6 mutations
- A novel mutation of AMH in three siblings with persistent Mullerian duct syndrome
- Kocher-Debré-Semelaigne syndrome with rhabdomyolysis and increased creatinine
- Anaphylaxis to gonadorelin acetate in a girl with central precocious puberty
- Efficacy and safety of sirolimus in a neonate with persistent hypoglycaemia following near-total pancreatectomy for hyperinsulinaemic hypoglycaemia
