A. Aversa

A. Calogero

A. Ferlin

A. Garolla

A. Pizzocaro

D. Pasquali

F. Lanfranco

G. Accardo

G. Balercia

G. Corona

L. Vignozzi

M. Bonomi

M. Maggi

P. Chiodini

P. Salacone

R. Pivonello

V. Giagulli

V. Rochira

V. Simeon

English

Archivio istituzionale della ricerca - Università di Modena e Reggio Emilia

CO Ϭϯϲ Ͳ CHARACTERISTICS͕ GEOGRAPHICAL DISTRIBUTION AND AGE AT DIAGNOSIS OFPATIENTS  WITH  KLINEFELTER  SYNDROME  IN  ITALY͗  A  COHORT  STUDY  FROM  THEKLINEFELTER ITALIAN GROUP ;KINGͿD͘ PaƐƋƵaůiϭ͕ A͘ GaƌŽůůaϮ͕ G͘ AccaƌdŽϭ͕ P͘ ChiŽdiŶiϯ͕ V͘ SiŵeŽŶϰ͕ A͘ FeƌůiŶϮ͕ M͘ Maggiϱ͕ L͘ VigŶŽǌǌiϱ͕ G͘CŽƌŽŶaϲ͕ F͘ LaŶfƌaŶcŽϳ͕ V͘ RŽchiƌaϴ͕ A͘ CaůŽgeƌŽϵ͕ V͘ GiagƵůůiϭϬ͕ M͘ BŽŶŽŵiϭϭ͕ R͘ PiǀŽŶeůůŽϭϮ͕ G͘Baůeƌciaϭϯ͕ A͘ PiǌǌŽcaƌŽϭϰ͕ P͘ SaůacŽŶeϭϱ͕ A͘ AǀeƌƐaϭϲϭDiƉaƌƚiŵeŶƚŽ di ScieŶǌe Mediche e ChiƌƵƌgiche AǀaŶǌaƚe NaƉŽůi͕ ϮUŶiǀeƌƐiƚà di PadŽǀa PadŽǀa͕ϯDiƉaƌƚiŵeŶƚŽ di SaůƵƚe MeŶƚaůe e FiƐica E ŵediciŶa PƌeǀeŶƚiǀa NaƉŽůi͕ ϰUŶiǀeƌƐiƚà di BƌeƐcia BŽůŽgŶa͕ϱUŶiǀeƌƐiƚà di FiƌeŶǌe FiƌeŶǌe͕ ϲAUSL di BŽůŽgŶa BŽůŽgŶa͕ ϳDiƉaƌƚiŵeŶƚŽ di ScieŶǌe Mediche di TŽƌiŶŽTŽƌiŶŽ͕ ϴUŶiǀeƌƐiƚà di MŽdeŶa e ReggiŽ Eŵiůia MŽdeŶa͕ ϵUŶiǀeƌƐiƚà di CaƚaŶai CaƚaŶia͕ ϭϬASL di BaƌiBaƌi͕ ϭϭUŶiǀeƌƐiƚà di MiůaŶŽ e IRCCS IƐƚiƚƵƚŽ AƵǆŽůŽgicŽ MiůaŶŽ͕ ϭϮUŶiǀeƌƐiƚà di MediciŶa CůiŶica eChiƌƵƌgica NaƉŽůi͕ ϭϯUŶiǀeƌƐiƚà di AŶcŽŶa e deůůe Maƌche AŶcŽŶa͕ ϭϰIRCCS͕ IƐƚiƚƵƚŽ CůiŶicŽ HƵŵaŶiƚaƐ͕RŽǌǌaŶŽͲMiůaŶ MiůaŶŽ͕ ϭϱSaŶƚa Maƌia GŽƌeƚƚi HŽƐƉiƚaů LaƚiŶa͕ ϭϲUŶiǀeƌƐiƚà di CaƚaŶǌaƌŽ CaƚaŶǌaƌŽIŶƚƌŽdƵcƚŝŽŶKlinefelter syndrome (KS) is the most frequent chromosomal disorders, occurring in ϭ:ϱϬϬ to ϭ:ϭϬϬϬ livemale births,  associated to male infertility.  Although significant  research has been conducted,  KSremains frustratingly underdiagnosed with a remarkable portion of cases being unidentified, amongwhich only ϭϬй are in the prepubertal age while Ϯϱ-ϱϬй in the adulthood. Under diagnosis may be dueto men’s hesitancy about seeking medical attention, low awareness of KS among health professionals,and failure by health professionals to perform routine genital examinations in adult men.Aŝŵ Our purpose was to describe the phenotypic characteristics and the hormonal patterns of a largecohort of patients currently attending a national network of academic or general hospitals of theKlinefelter Italian Group (KING). Moreover, we focused our interest on the geographical distribution,and age at diagnosis of KS patients in Italy.MeƚŚŽdƐA multicenter, observational study of ϱϵϰ KS was performed among the patients regularly attending theKING centers, after written informed consent has been obtained.ReƐƵůƚƐ Five hundred and ninety four KS from ϭϰ units have been registered. The mean age was ϯϳ.ϰцϭϯ.ϰ years(median IQR Ϯϴ–ϰϲ)͘ The mean testicular volume was ϯ ml in both testis (fig ϭ A), BMI was Ϯϲ.ϲцϱ.ϴ (figϭ  B)  and  Ϯϱ.ϱй  of  KS  meet  the  diagnostic  criteria  for  metabolic  syndrome  (Mets).  Mean  totaltestosterone was ϯϱϬцϵ.ϭ ng/dl, and LH and FSH mean levels were ϭϲ,ϲ (median IQR ϴ.ϴ-ϮϮ.ϱ) and Ϯϴ.ϱ(median IQR (ϭϳ.ϱ - ϯϵ), respectively.  A descriptive analysis performed in ϱϵϰ KS, showed that ϯϮϵ KSwere referred to KING centers of Northern Italy, ϲϱ and ϮϬϬ KS patients to KING facilities in Central andSouthern Italy, respectively. Analysis of variance showed significant statistical differences (pфϬϬϬϬϬ)between the ages at diagnosis of the KS of the three geographical groups. In particular the age of KSpatients was significantly lower in Southern Italy (ϯϯ.ϯ ц ϭϯ SD) compared to Central and Northern Italy(ϰϬ.Ϯ  ц ϭϮ.ϱ SD and ϯϵ.Ϯ ц ϭϯ.ϯ SD).CŽŶcůƵƐŝŽŶƐOur preliminary data showed that KS is highly underdiagnosed in Italy, raising the question of the trueprevalence of KS. Our patients presented with a wide spectrum of the classical Klinefelter symptoms. KSwere overweight and, surprisingly, only Ϯϱ,ϱй of them were diagnosed with Mets. This figure is veryclose to the Mets prevalence in the Italian general population quoted around Ϯϲй. In adulthood, twofeatures were consistently present in every subject: small testes and high FSH and LH/testosteroneratio, despite normal testosterone levels. The differences of KS age between geographical groupshighlight the need for increased awareness leading to timely detection.

Characteristics, geographical distribution and age at diagnosis of patients with Klinefelter Syndrome in Italy: a cohort study from the Klinefelter Italian Group (KING)

https://iris.unimore.it/bitstream/11380/1199370/1/0118_Pasquali_et_al_CO036_40_Congresso_Nazionale_SIE_2019_Roma.pdf

Characteristics, geographical distribution and age at diagnosis of patients with Klinefelter Syndrome in Italy: a cohort study from the Klinefelter Italian Group (KING)

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