References
Pitteloud N, Quinton R, Pearce S et al (2007) Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism. J Clin Invest 117:457–463
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–L5
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 11:521–523
Kaplan JD, Bernstein JA, Kwan A, Hudgins L (2010) Clues to an early diagnosis of Kallmann syndrome. Am J Med Genet A 152A:2796–2801
Abecasis GR, Auton A, Brooks LD et al (2012) An integrated map of genetic variation from 1,092 human genomes. Nature 491:56–65
Quinton R, Duke VM, Robertson A et al (2001) Idiopathic gonadotrophin deficiency: genetic questions addressed through phenotypic characterization. Clin Endocrinol 55:163–174
Sanna-Cherchi S, Caridi G, Weng PL et al (2007) Genetic approaches to human renal agenesis/hypoplasia and dysplasia. Pediatr Nephrol 22:1675–1684
Acknowledgements
We would like to thank Dr. William F. Crowley for his contribution in the genoty** of the patient in the Reproductive Endocrine Unit of Massachusetts General Hospital and for his valuable and constant mentorship.
Funding
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).
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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.
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Stamou, M.I., Plummer, L., Galli-Tsinopoulou, A. et al. Unilateral renal agenesis as an early marker for genetic screening in Kallmann syndrome. Hormones 18, 103–105 (2019). https://doi.org/10.1007/s42000-018-0061-1
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DOI: https://doi.org/10.1007/s42000-018-0061-1