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Hormones

, Volume 18, Issue 1, pp 103–105 | Cite as

Unilateral renal agenesis as an early marker for genetic screening in Kallmann syndrome

  • M. I. StamouEmail author
  • L. Plummer
  • A. Galli-Tsinopoulou
  • D. Stergidou
  • V. Koika
  • N. A. Georgopoulos
Letter to the Editor
  • 44 Downloads

Dear Editor,

Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is a rare Mendelian disorder characterized by genetic and phenotypic heterogeneity. Apart from failure of sexual maturation and pubertal development (i.e., the normosmic form of idiopathic hypogonadotropic hypogonadism (nIHH) or the anosmic form of Kallmann syndrome (KS)), the disorder is also characterized by various non-reproductive features, including unilateral renal agenesis (URA). Interestingly, family members of affected patients usually display milder forms of IGD or its non-reproductive features, such as isolated anosmia and URA, highlighting the variable expressivity of the disorder [1, 2].

We have previously reported the prepubertal diagnosis of KS in a male patient with URA, who carried a mutation in the gene of anosmin 1-ANOS1, previously known as kallmann-1 (KAL1) [3], while other non-reproductive IGD features have been utilized for an early KS diagnosis [4]. With this letter, we would like to...

Notes

Acknowledgements

We would like to thank Dr. William F. Crowley for his contribution in the genotyping of the patient in the Reproductive Endocrine Unit of Massachusetts General Hospital and for his valuable and constant mentorship.

Author’s contributions

MIS conceived part of the study, participated in its design and coordination, participated in the molecular genetics studies, and drafted the manuscript; PL participated in coordination of the project, carried out the molecular genetic studies, and participated in the sequence alignment; AGT examined the patients, performed all hormonal and imaging tests and made the final diagnosis, referred the patient for genetic testing, and obtained informed consent; DS examined the patients, performed all hormonal and imaging tests and made the final diagnosis, referred the patient for genetic testing, and obtained informed consent; KV participated in coordination of the project and carried out part of the molecular genetic studies; GAN conceived the study, participated in its design and coordination, and helped to draft the manuscript. All authors read and approved the final manuscript.

Funding information

Dr. Maria I. Stamou would like to thank the Alexander S. Onassis Foundation for the support of her research training. This work was supported by the Eunice Kennedy Shriver National Institute of Child Health and Development (NICHD), Harvard Reproductive Sciences Center (P50 HD028138).

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

References

  1. 1.
    Pitteloud N, Quinton R, Pearce S et al (2007) Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism. J Clin Invest 117:457–463CrossRefGoogle Scholar
  2. 2.
    Stamou MI, Varnavas P, Kentrou M et al (2017) Isolated GNRH deficiency: genotypic and phenotypic characteristics of the genetically heterogeneous Greek population. Eur J Endocrinol 176:L1–L5CrossRefGoogle Scholar
  3. 3.
    Georgopoulos NA, Koika V, Varnavas P et al (2009) Can Kallmann syndrome be occasionally diagnosed during childhood? Genetic diagnosis in a child with associated renal agenesis and mirror movements. Asian J Androl 11:521–523CrossRefGoogle Scholar
  4. 4.
    Kaplan JD, Bernstein JA, Kwan A, Hudgins L (2010) Clues to an early diagnosis of Kallmann syndrome. Am J Med Genet A 152A:2796–2801CrossRefGoogle Scholar
  5. 5.
    Abecasis GR, Auton A, Brooks LD et al (2012) An integrated map of genetic variation from 1,092 human genomes. Nature 491:56–65CrossRefGoogle Scholar
  6. 6.
    Quinton R, Duke VM, Robertson A et al (2001) Idiopathic gonadotrophin deficiency: genetic questions addressed through phenotypic characterization. Clin Endocrinol 55:163–174CrossRefGoogle Scholar
  7. 7.
    Sanna-Cherchi S, Caridi G, Weng PL et al (2007) Genetic approaches to human renal agenesis/hypoplasia and dysplasia. Pediatr Nephrol 22:1675–1684CrossRefGoogle Scholar

Copyright information

© Hellenic Endocrine Society 2018

Authors and Affiliations

  • M. I. Stamou
    • 1
    • 2
    • 3
    Email author
  • L. Plummer
    • 1
  • A. Galli-Tsinopoulou
    • 4
  • D. Stergidou
    • 4
  • V. Koika
    • 2
  • N. A. Georgopoulos
    • 2
  1. 1.Harvard Reproductive Endocrine Sciences Center and the Reproductive Endocrine Unit of the Department of MedicineMassachusetts General HospitalBostonUSA
  2. 2.Department of Obstetrics and Gynecology, Division of Reproductive EndocrinologyUniversity of Patras Medical SchoolPatrasGreece
  3. 3.Mount Auburn Hospital, Harvard Medical School Teaching HospitalCambridgeUSA
  4. 4.Department of Pediatrics, Medical SchoolAristotle University of ThessalonikiThessalonikiGreece

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