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...

hrp0094p1-145 | Sex Endocrinology and Gonads B | ESPE2021

Serum anti-Müllerian hormone as a marker of ovarian reserve among childhood cancer survivors

Molinari Silvia , Parissone Francesca , Evasi Veronica , Marco Santo Di , Biondi Andrea , Cattoni Alessandro ,

Introduction: Female patients treated with alkylating agents in childhood are at risk for ovarian impairment. We aimed at describing the pattern of residual ovarian function in a cohort of hematological cancer survivors, assessing the relationship between the cumulative dose of alkylating agents administered (expressed as Cyclophosphamide Equivalent Dose - CED) and Anti-Müllerian Hormone (AMH) levels.Methods: Gonada...

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 ...

hrp0094fc3.6 | Growth Disorders | ESPE2021

Growth patterns in children with Mucopolysaccharidosis type I-Hurler after haematopoietic stem cell transplantation: comparison with untreated patients

Chiaraluce Sofia , Molinari Silvia , Di Marco Santo , Gasperini Serena , Biondi Andrea , Rovelli Attilio , Parini Rossella , Cattoni Alessandro ,

Background: Mucopolysaccharidosis I Hurler (MPS-IH is an inborn error of metabolism arising from the defective activity of alpha-L-iduronidase, an enzyme involved in the degradation of glycosaminoglycans (GAGs). As a result, the pathological lysosomal storage of GAGs in several tissues leads to multi-systemic complications, such as hepatosplenomegaly, progressive central nervous system deterioration, skeletal dysplasia and faltering growth, commonly resulting ...