EYES2024 ESE Young Endocrinologists and Scientists (EYES) 2024 Reproductive Endocrinology (10 abstracts)
Anogenital distance in klinefelter syndrome: a case-control study
Valentina Vitale 1,2 , Walter Vena 2,3 , Chiara Bughetti 1,2 , Alessandro Brunetti 1,2 , Giulia Maida 1,2 , Emanuela Morenghi 4 , Luciano Negri 5 , Renzo Benaglia 5 , Antonio Bossi 3 , Fabio Vescini 6 , Gherardo Mazziotti 1,2 , Andrea Lania 1,2 & Alessandro Pizzocaro 1
1Endocrinology, Diabetology and Andrology Unit, IRCCS Humanitas Research Hospital, Rozzano, Italy; 2Department of Biomedical Sciences, Humanitas University Pieve Emanuele, Italy; 3Endocrinology and Diabetology Center, Humanitas Gavazzeni-Castelli, Bergamo, Italy; 4Biostatistics Unit, Humanitas Clinical and Research Center, Rozzano, Italy; Department of Biomedical Sciences, Humanitas University Pieve Emanuele, Italy; 5Department of Gynecology, Division of Gynecology and Reproductive Medicine-Fertility Center, IRCCS Humanitas Research Hospital, Rozzano, Italy; 6Endocrinology Unit, University Hospital S. Maria della Misercordia, Udine, Italy.
Background: Serum testosterone (T) levels may fall at different stages of sexual development in Klinefelter syndrome (KS), whereas overt hypogonadism typically arises after puberty. Nevertheless, normal mini-puberty and puberty are still debated in KS subjects. Anogenital distance (AGD) is an anthropometric parameter under the influence of early life and childhood androgen exposure. Genital anomalies, testicular cancer and oligospermia have been associated with a shorter AGD in men. While other androgen-dependent anthropometric measures such as stretched penis length (SPL) and testicular volume (TV) have been described in KS populations, in this study we focused on AGD, which has never been investigated before.
Objectives: To explore the role of AGD as an anthropometric marker of androgenization in adult KS.
Methods: We evaluated TV, AGD and SPL in 53 KS patients and 101 Caucasian men with normal T levels (>12 nmol/l), using an orchidometer for TV, a digital caliper for AGD and a standard meter for SPL. In both groups, AGD was related to hormone levels (T, LH, FSH) and anthropometric characteristics. Results: KS exhibited significantly lower T levels vs controls (9,4 ± 4,5 nmol/l vs 19,6 ± 5,1 nmol/l) and markedly lower TV (2,5 ± 1,1 ml vs 15,4 ± 4,7 ml), reflecting KS-related hypogonadism. KS and controls had comparable AGD (P = 0,954), with average values, respectively, of 6,9±1,6 cm [95% CI 6,4-7,3] and 6,87±1,44 cm [95% CI 6,6-7,2]. In neither group AGD was correlated to T levels, TV, SPL or arm span. Notably, AGD showed a significant correlation with waist circumference [P = 0,004] and body mass index [P < 0,001] only in KS, but not in control subjects. Conclusions: despite lower T levels, KS subjects have similar AGD compared to healthy control and our result support the hypothesis that KS may receive sufficient androgen exposure during mini-puberty and puberty.
Volume 102
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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