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ea0070aep571 | Pituitary and Neuroendocrinology | ECE2020

Deletion of chromosome 1q24-1q32 and combined pituitary hormone deficiency type 4: Insight into the challenges of genotype-phenotype correlation

Giavoli Claudia , Ubertini Graziamaria , Giacchetti Federico , Rodari Giulia , Profka Eriselda , Cianfarani Stefano , Arosio Maura , Cappa Marco

Background: Interstitial deletions of the long arm of chromosome 1 are rare and classified as proximal or intermediate, the intermediate spanning bands 1q24–1q32. This region contains several genes, including LHX4, a LIM-homeodomain transcription factor essential in the early steps of pituitary ontogenesis. Indeed, mutations in the LHX4 gene are related to combined pituitary hormone deficiency type 4 (CPHD4, OMIM 602146).Aim: outline the impact of ...

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ea0081rc12.7 | Rapid Communications 12: Reproductive and Developmental Endocrinology | ECE2022

Pubertal induction in girls with hypogonadism: insight into estrogen replacement therapy outcomes and optimization of progesterone introduction

Rodari Giulia , Federici Silvia , Cattoni Alessandro , Todisco Tommaso , Ubertini Graziamaria , Giacchetti Federico , Profka Eriselda , Dall'Antonia Alberta , Cangiano Biagio , Arosio Maura , Bonomi Marco , Cappa Marco , Giavoli Claudia

Background: Pubertal induction in girls with hypogonadism through estrogen replacement therapy (ERT) aims at mimicking physiological puberty. To date, the best induction regimen is still to be established.Aims: By setting up a multicentre clinical registry, we analysed longitudinal data on pubertal induction in girls with hypogonadotropic hypogonadism or premature ovarian insufficiency (congenital, acquired, isolated or associated with multiple pituitary...

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Endocrine Abstracts

Deletion of chromosome 1q24-1q32 and combined pituitary hormone deficiency type 4: Insight into the challenges of genotype-phenotype correlation

Pubertal induction in girls with hypogonadism: insight into estrogen replacement therapy outcomes and optimization of progesterone introduction

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