ESPE2023 Poster Category 2 Growth and Syndromes (32 abstracts)
Gonadotropin and Estradiol levels in Turner Syndrome: does an old dog teach new tricks?
Emilio Casalini 1,2 , Daniela Fava 1,2 , Angelelli Alessia 1,2 , Giuseppa Patti 1,2 , Flavia Napoli 1 , Anna Elsa Maria Allegri 1 , Roberto Gastaldi 1 , Caterina Tedesco 1 , Tommaso Passarella 1,2 , Angela Pistorio 3 , Mohamad Maghnie 1,2 & Natascia Di Iorgi 1,2
1Pediatric Endocrinology Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy, Genova, Italy. 2Department of Neuroscience, Rehabilitation, Ophtalmology, Genetics, Maternal and Child Health - DINOGMI, University of Genova, University of Genova, Genova, Italy, Genova, Italy. 3Biostatistics Unit, Scientific Directorate, IRCCS Istituto Giannina Gaslini, Genova, Italy, Genova, Italy
Background: Hypergonadotropic hypogonadism (HH) is an hallmark of Turner Syndrome (TS) and hormone replacement therapy (HRT) is often required for pubertal induction; this retrospective study highlights the pituitary-gonadal axis during infancy (<5 years), childhood (5–10.9 years) and adolescence (> 11 years) in a cohort of TS patients enrolled between February 1999 to March 2023. Our aim is to underline the diagnostic role of Gonadotropins as a marker of early ovarian failure and to evaluate Gonadotropin’s trends by comparing it with a control group.
Methods: We collect measurements of LH (n=587), FSH (n=592) and 17BetaEstradiol (17βE) (n=546) prior to HRT in a cohort of 83 patients with TS [Group A: 45,X0 (n=32); Group B mosaicism (n=19); Group C X-ring chromosome (n=8); Group D miscellaneous karyotypes (n=24)] comparing them with 220 age matched controls. The results are expressed in median (1st – 3rd quartile) and Mann-Whitney U test was performed to compare the values between the groups.
Results: Regarding puberty, 43 patients (51.8%) needed HRT for pubertal induction, 19 (22%) were prepubertal, 10 (12%) had spontaneous puberty (1 Group A, 8 Group B, 1 Group D), 6 (7.2%) needed HRT due to failure to pubertal progression and 5 (6%) for oligomenorrhea after spontaneous menarche. At the first evaluation [median age 7.4 years (2.9 – 11.4)], FSH and LH were higher in TS than in control group in childood (p <0.001 for each) and adolescence (P=0.003 and P<0.001), while 17βE was lower in adolescence in TS (P=0.008). Considering the whole follow-up, both FSH and LH were significantly higher in the 3 age categories (P=0.004 and P=0.001 in infancy and both P<0.001 for childhood and adolescence) in all of the patients’ group except for B. 17βE was lower in adolescence in TS than in control groups (P=0.026).
Conclusions: Measuring LH, FSH and 17βE is an helpful tool to detect early ovarian failure and to diagnose TS; the levels of LH and FSH were significantly higher in the three age categories with a diphasic pattern. We confirm a less-severe Gonadotropins’ trend in mosaicism with no differences between controls: in this category, 42% of the patients experienced spontaneous puberty without the necessity of HRT. Classic TS patients have higher peak of LH and FSH than other patients groups and this is related to their ovarian function, lower than other groups.
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