Fax +41 61 306 12 34 E-Mail karger@karger.ch www.karger.com Original Paper Horm Res 2008;70:236–239 DOI: 10.1159/000151596 No Association between T222P/LGR8 Mutation and Cryptorchidism in the Moroccan Population Brahim El Houate a Hassan Rouba a Laila Imken a Hicham Sibai b Abdelaziz Chafik c Redouane Boulouiz a Elbakkay Chadli a Mohmmed Hassar a Ken McElreavey d Abdelhamid Barakat a a Human Genetic Laboratory, Pasteur Institute of Morocco, Casablanca, b Service of Visceral Surgery, CHU Ibn Rochd Morocco, Casablanca, c Laboratoire d’Anthropogénétique et Biostatistique, Université Chouaib Doukali Eljadida, Eljadida, Morocco; d Reproduction, Fertility and Population, Pasteur Institute of Paris, Paris, France present in the Moroccan population, but an association be- tween cryptorchidism and the T222P mutation was not found. Copyright © 2008 S. Karger AG, Basel Introduction Cryptorchidism is the most common genital problem encountered in pediatrics. Cryptorchidism means hid- den testis and refers to an undescended or maldescended testis. Predisposing factors include prematurity, low birth weight, small size for gestational age, twinning, and ma- ternal exposure to estrogen during the first trimester [1]. Patients with cryptorchidism are at increased risk of tes- ticular tumor development and reduced fertility. Strong evidence demonstrates a genetic component to cryptor- chidism in mice [2–4] . Mutation of the genes encoding either INSL3 (insulin-like hormone) or its receptor LGR8 (also known as GREAT), compromises the transabdomi- nal phase of testicular descent, causing cryptorchidism. The INSL3:LGR8 system is implicated in testicular de- scent via gubernacular development. LGR8 mRNA was Key Words Cryptorchidism  LGR8  T222P mutation Abstract Background: Cryptorchidism is the most common genital anomaly in men. The INSL3/LGR8 system is involved in tes- ticular descent via gubernacular development. INSL3 binds with high affinity to its receptor LGR8 and receptor activa- tion is associated with cAMP signaling. Analysis of human INSL3 and LGR8 mutations confirms that some cases of crypt- orchidism are caused by mutations in these genes. The T222P mutation is the only one within the LGR8 gene associ- ated with the cryptorchidism phenotype. A strong associa- tion of the T222P mutation with cryptorchidism was found in an Italian population. Due to the same mutation being found in patients within the Mediterranean area, a possible founder effect of this mutation is supposed. Methods: We screened 109 patients with cryptorchidism and 250 controls in a Moroccan population. Results: We found that 3 of the 109 patients tested carry the T222P mutation and 4 individu- als in the control group also carry the mutation. Conclu- sions: Our results show in fact that the same mutation is Received: July 4, 2007 Accepted: January 10, 2008 Published online: September 5, 2008 HORMONE RESEARCH Abdelhamid Barakat Department of Human Genetics, Institut Pasteur du Maroc 1, Place Abou Kacem Ez-Zahraoui – BP 120 Casablanca (Morocco) Tel. +212 2243 4470, Fax + 212 2226 0957, E-Mail hamid.barakat@pasteur.ma © 2008 S. Karger AG, Basel 0301–0163/08/0704–0236$24.50/0 Accessible online at: www.karger.com/hre