Imperial College London
Alternate

ProfessorWaljitDhillo

Faculty of Medicine, Department of Metabolism, Digestion and Reproduction

Professor of Endocrinology & Metabolism
 
 
 
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Contact

 

+44 (0)20 7594 3487w.dhillo Website

 
 
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Assistant

 

Ms Suzanne Wheeler +44 (0)20 7594 3487

 
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Location

 

6N6ECommonwealth BuildingHammersmith Campus

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Summary

 

Publications

Citation

BibTex format

@article{Cassatella:2018:10.1530/EJE-17-0568,
author = {Cassatella, D and Howard, SR and Acierno, JS and Xu, C and Papadakis, GE and Santoni, FA and Dwyer, AA and Santini, S and Sykiotis, GP and Chambion, C and Meylan, J and Marino, L and Favre, L and Li, J and Liu, X and Zhang, J and Bouloux, P-M and De, Geyter C and De, Paepe A and Dhillo, WS and Ferrara, J-M and Hauschild, M and Lang-Muritano, M and Lemke, JR and Fluck, C and Nemeth, A and Phan-Hug, F and Pignatelli, D and Popovic, V and Pekic, S and Quinton, R and Szinnai, G and I'Allemand, D and Konrad, D and Sharif, S and Iyidir, OT and Stevenson, BJ and Yang, H and Dunkel, L and Pitteloud, N},
doi = {10.1530/EJE-17-0568},
journal = {European Journal of Endocrinology},
pages = {377--388},
title = {Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures},
url = {http://dx.doi.org/10.1530/EJE-17-0568},
volume = {178},
year = {2018}
}
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RIS format (EndNote, RefMan)

TY  - JOUR
AB  - ObjectiveCongenital hypogonadotropic hypogonadism (CHH) and constitutional delay of growth and puberty (CDGP) represent rare and common forms of GnRH deficiency, respectively. Both CDGP and CHH present with delayed puberty, and the distinction between these two entities during early adolescence is challenging. More than 30 genes have been implicated in CHH, while the genetic basis of CDGP is poorly understood.DesignWe characterized and compared the genetic architectures of CHH and CDGP, to test the hypothesis of a shared genetic basis between these disorders.MethodsExome sequencing data were used to identify rare variants in known genes in CHH (n = 116), CDGP (n = 72) and control cohorts (n = 36 874 ExAC and n = 405 CoLaus).ResultsMutations in at least one CHH gene were found in 51% of CHH probands, which is significantly higher than in CDGP (7%, P = 7.6 × 10−11) or controls (18%, P = 5.5 × 10−12). Similarly, oligogenicity (defined as mutations in more than one gene) was common in CHH patients (15%) relative to CDGP (1.4%, P = 0.002) and controls (2%, P = 6.4 × 10−7).ConclusionsOur data suggest that CDGP and CHH have distinct genetic profiles, and this finding may facilitate the differential diagnosis in patients presenting with delayed puberty.
AU  - Cassatella,D
AU  - Howard,SR
AU  - Acierno,JS
AU  - Xu,C
AU  - Papadakis,GE
AU  - Santoni,FA
AU  - Dwyer,AA
AU  - Santini,S
AU  - Sykiotis,GP
AU  - Chambion,C
AU  - Meylan,J
AU  - Marino,L
AU  - Favre,L
AU  - Li,J
AU  - Liu,X
AU  - Zhang,J
AU  - Bouloux,P-M
AU  - De,Geyter C
AU  - De,Paepe A
AU  - Dhillo,WS
AU  - Ferrara,J-M
AU  - Hauschild,M
AU  - Lang-Muritano,M
AU  - Lemke,JR
AU  - Fluck,C
AU  - Nemeth,A
AU  - Phan-Hug,F
AU  - Pignatelli,D
AU  - Popovic,V
AU  - Pekic,S
AU  - Quinton,R
AU  - Szinnai,G
AU  - I'Allemand,D
AU  - Konrad,D
AU  - Sharif,S
AU  - Iyidir,OT
AU  - Stevenson,BJ
AU  - Yang,H
AU  - Dunkel,L
AU  - Pitteloud,N
DO  - 10.1530/EJE-17-0568
EP  - 388
PY  - 2018///
SN  - 0804-4643
SP  - 377
TI  - Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures
T2  - European Journal of Endocrinology
UR  - http://dx.doi.org/10.1530/EJE-17-0568
UR  - https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000429079300011&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=a2bf6146997ec60c407a63945d4e92bb
UR  - https://doi.org/10.1530/EJE-17-0568
UR  - http://hdl.handle.net/10044/1/107031
VL  - 178
ER  -
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