Ceulemans, Peter

Cools, Martine

Hoebeke, Piet

Lumen, Nicolaas

Monstrey, Stan

English

Ghent University Academic Bibliography

15547th Annual Meeting of the ESPE ________________________________________________________ __________________________________________________________________________________Horm Res 2008;70(suppl )strong necessity to look for the precise familial history (sometimes hidden). -> Mullerian structures in AIS have already been reported. Some mechanisms for absence of Müllerian Ducts regression in AR mutation have been sug-gested as AMHR mutation., unavailable hypothethis in our patient. Further studies should promote a better understanding of this pathogenic association.________________P2-d2-519	Sex	Dif ferentiationThe IVS1-2A>G mutation in the SRD5A2 gene is present in all Greek Cypriot patients with 5 alpha reductase deficiency diagnosed so farAndreas Kyriakou1; Yiannis S Ioannou1; Meropi Toumba1; Amalia Ser tedaki2; Christina Kanaka-Gantenbein2; Serge Lumbroso3; Charles Sultan3; Nicos Skordis11Makarios	Hospital,	Pediatric	Endocrinology	Unit,	Nicosia,	Cyprus;	2Athens	University,	Endocrinology	Unit,	First	Department	of	Pediatrics,	Athens,	Greece;	3Hopital	Lapeyronie,	Service	d’Hormonologie,	CHU,	Montpellier,	France5 Alpha Reductase deficiency (5α SRD) is caused by mutations in the 5α Steroid Reductase type 2 gene (SRD5A2). More than 40 gene mutations have been reported worldwide, with some recurrent mutations commonly repor-ted among various ethnic populations while other mutations reflect a founder gene effect in individuals with a common ancestry. The aim of our study was to identify the genetic defect in the SRD5A2 gene in Greek Cypriot patients with 5α SRD, whose diagnosis was based on clinical and biochemical criteria. Four unrelated patients with 46, XY karyotype and 5α SRD were investiga-ted. Patients 1, 2 and 3 presented with ambiguous genitalia at birth whereas patient 4 (raised as girl) presented at the age of 4 years with signs of sexual infantilism and virilization. The hCG test was informative of 5α SRD, as it showed an elevated T/DHT ratio (23.5, 29 and 29.6) after stimulation. All five exons of the SRD5A2 gene were screened for mutations by direct sequencing of PCR products. Patients 1, 3 and 4 were found homozygous for the mutation A>G at the splice site of intron 1/exon 2 (IVS1-2A>G/IVS1-2A>G). Patient 2 was compound heterozygote for the mutations IVS1-2A>G and Pro181Leu. The same mutation (IVS1-2A>G) in the SRD5A2 gene was identified in four unrelated patients, both in homozygous and heterozygous state. This splice site mutation seems to characterize our population and is probably due to a gene founder effect. This underlying genetic abnormality has been alrea-dy reported in Turkish patients and it may be characteristic for the Eastern Mediterranean region. The Pro181Leu mutation found most probably does not reflect a founder effect as it has been previously identified in patients of Italian origin.________________P2-d2-520	Sex	Dif ferentiationThree new mutations in androgen receptor gene identified in patients with 46,XY SDS: Complications for genetic counsellingAnnalisa Nicolet ti; Lilia Baldazzi; Soara Menabò; Monia Gennari; Giuseppe Cangemi; Maurizio Maccaferri; Alessandro CicognaniS.orsola-Malpighi	Hospital,	University	of	Bologna,	Pediatric	Department,	Bologna,	ItalyAndrogen receptor insensitivity syndrome (AIS) is characterized by a wide spectrum of phenotypes ranging from 46,XY subjects with genitals complete-ly female to normal male with infertility, more then 500 mutations are repor-ted in the AR gene, mostly inherited in X-linked manner, few cases presented de novo mutations. In these last 20 years in vitro and in vivo functional studies on mutated androgen receptor, the determination of 3D structure of hormone binding domain, the identification of wide number of cofactors interacting with the androgen receptor, and the more recent studies of expression of geni-tal tissue, gave a big contribute to understand the bio-molecular and pathoge-netic aspects of androgen action. Here we reported the results of the analysis of AR gene in four patients with AIS, that we consider emblematic of how all these acquisitions on androgen receptor biology could help the clinical corre-lation of new mutations, but also highlight some critical aspects regarding in particular the genetic counselling to the families. All the patients has 46,XY karyotype, two are sisters with complete female genitals, diagnosed for the presence of inguinal hernia in the older sister, the other two are males with a severe hypospadias. The genomic DNA was isolated from peripheral blood and all coding sequences AR genes were submitted to direct sequencing. Four different mutations were found, three of which new, in one patient were iden-tified two mutations. All the relatives available for the genetic analysis were studied for carrier identification, the results of families analysis revealed some incongruence regarding the mechanism of the mutagen event affecting the AR gene. On the basis of 3D structure and data reported in the literature we propo-se a genotype-phenotype correlation for the new mutations, with the purpose to give a contribute to clinical management and genetic counselling.________________P2-d2-521	Sex	Dif ferentiationPhalloplasty as a treatment for severe penile insufficiencyNicolaas Lumen1; Piet Hoebeke1; Stan Monstrey2; Peter Ceulemans2; Mar tine Cools31University	Hospital	Ghent,	Urology	and	Urogenital	Reconstruction,	Ghent,	Belgium;	2University	Hospital	Ghent,	Plastic	Surgery,	Ghent,	Belgium;	3University	Hospital	Ghent,	Pediatrics,	Ghent,	BelgiumMales with severe penile insufficiency in conditions such as penile agene-sis, micropenis or some disorders of sex development (DSD) remain a major challenge to the reconstructive urologist. With a large experience using phal-loplasty in female-to-male transsexual surgery, we started to use this techni-que for severe penile insufficiency. Eleven males (age 15 to 42 years) were treated with phalloplasty (7 with radial forearm free flap and 4 with anterola-teral thigh flap) between March 2004 and December 2007 (follow-up: 3 to 47 months). All patients suffered psychologically from their condition with a low self-esteem and sexual and relational dysfunction. They were evaluated by a sexuologist-psychiatrist before and after surgery. Erectile implant surgery was offered about one year after the phallic reconstruction. There were no com-plications concerning the flap. Two complications (pulmonary embolism and severe hematuria) were reported in the early post-operative period. Four pati-ents developed urinary complications (stricture and/or fistula). Patient satisf-action after surgery was high in 0 cases and moderate in one case. Psycholo-gical evaluation confirms this, especially on the self-esteem level. Six patients underwent erectile implant surgery. In 2 patients the erectile implant had to be removed due to infection or erosion. Our first experience with phalloplasty in young males has convinced us that this technique is a valuable treatment for severe penile insufficiency. It has good results on the self-esteem level and their sexual well-being. However, urinary complications occurred in 4/11 patients and explantation of the erectile implant occurred in 2/6 patients. Pati-ents must be informed about these possible and frequent urological complica-tions. This technique opens new horizons for the treatment of conditions such as penile agenesis, micropenis, some DSD conditions and cloacal exstrophy. More research is necessary on the criteria for patient selection, prevention of complications, and long-term functional and psychological outcome. Patient Indications Type of phalloplastyAge (years)Follow-up (months)Penile prosthesis1Shriveled penis - infected penile stiffenerAnterolateral thigh flap 42 38AMS Ambicor, 2 cylinders2 Shriveled penis - bladder extrophyRadial forearm free flap 23 47AMS Ambicor, 2 cylinders3 Shriveled penis - bladder extrophyRadial forearm free flap 16 40AMS Ambicor, 2 cylinders4 Penile amputation - epitheloid sarcomaRadial forearm free flap 15 24 No5 Crippled penis - hypospadiasRadial forearm free flap 20 24 No6 Shriveled penis - bladder extrophyRadial forearm free flap 15 22 No7 Penile necrosis - traffic accidentRadial forearm free flap 32 37AMS Ambicor, 2 cylinders8 Cloacal extrophy Anterolateral thigh flap 16 8 No9 Cloacal extrophy Anterolateral thigh flap 16 8 No10Micropenis - partial androgen insensitivity syndromeRadial forearm free flap 30 13 No11 Penile necrosis - priapismAnterolateral thigh flap 38 3 No

Phalloplasty as a treatment for severe penile insufficiency

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Phalloplasty as a treatment for severe penile insufficiency

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