hrp0094p1-137 | Growth Hormone and IGFs A | ESPE2021

Persistently increased IGF-I levels and excellent auxological response despite low doses of recombinant growth hormone in a GH-deficient patient with a heterozygous variant of the growth hormone receptor (GHR) gene

Laura Nicolosi Maria , Cattoni Alessandro , Maitz Silvia , Marco Santo Di , Biondi Andrea , Molinari Silvia ,

Introduction: Homozygous loss-of-function mutations of the growth hormone receptor (GHR) gene result in GH insensitivity due to a dysfunctional receptor protein. Heterozygous mutations may result in a variable clinical spectrum ranging from normal height to severe short stature. Gain-of-function variants have been reported rarely.Case Report: We hereby report the case of a Russian boy who was referred to our endocrine o...

hrp0094p2-313 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Co-occurrence of Turner (46,X-ring/45,X0 mosaicism) and Mayer-Rokitansky-Kuster-Hauser Syndromes: a case report

Ocello Laura , Ramponi Giulia , Maitz Silvia , Marco Santo Di , Adavastro Marta , Biondi Andrea , Cattoni Alessandro ,

Introduction: The co-occurrence of Turner Syndrome (TS) and Mayer-Rokitansky-Kuster-Hauser Syndrome (MRKHS) has been rarely described in literature. The resulting clinical picture includes congenital aplasia of the uterus and of the upper two-thirds of the vagina and ovarian dysgenesis.Case Report: We hereby report the case of a 14-year-old girl referred to our endocrine outpatient clinic for pubertal delay. Her previous medical history ...

hrp0094p2-209 | Fat, metabolism and obesity | ESPE2021

A novel homozygous variant of the leptin receptor (LEPR) gene causing familiar early-onset severe obesity in two siblings

Molinari Silvia , Ceccarini Giovanni , Masera Nicoletta , Spano Alice , Maitz Silvia , Fossati Chiara , Lazzerotti Alessandra , Santini Ferruccio , Cattoni Alessandro ,

Introduction: The leptin-melanocortin pathway is a well-studied pivotal player of body weight regulation and energy homeostasis. Pathogenic mutations of the genes involved in this pathway may result in early-onset severe obesity (ESO).Case Report: We hereby report the case of a 14-year-old girl who was referred to our pediatric outpatient clinic for the evaluation of ESO. Her parents were non-obese first cousins born in Morocco. At the t...