hrp0089p2-p208 | GH & IGFs P2 | ESPE2018

A Novel, Synonymous, Heterozygous, Splicing Variant Affecting the Intracellular Domain of the Growth Hormone Receptor: Causality for Mild Growth Impairment and IGF-I Deficiency in an Affected Patient?

Efthymiadou Alexandra , Papanastasiou Anastasios , Zarkadis Ioannis , Hwa Vivian , Chrysis Dionysios

Introduction: Although the majority of Growth Hormone insensitivity syndrome (GHIS) cases are classical, the spectrum of clinical phenotypes has expanded to include ‘atypical’ GHIS subjects with milder phenotypes due to very rare heterozygous GHR mutations with dominant negative effects.Case description: A 13 year old pubertal boy was presented with short stature (−1.7SD) and delayed bone age (11 6/12). Final adult height was &#8...

hrp0089rfc9.4 | Pituitary, Neuroendocrinology and Puberty 1 | ESPE2018

REplacement of MAle mini-Puberty in Neonates and Children with Micropenis and Cryptorchidism due to Hypogonadotropic Hypogonadism: Results of the ‘REMAP’ Study ISRCTN13007297

Papadimitriou Dimitrios T , Chrysis Dionysios , Nyktari Georgia , Zoupanos George , Liakou Eleni , Papadimitriou Anastasios , Mastorakos George

Background: Hormonal replacement in boys with congenital Hypogonadotrophic Hypogonadism (HH) as well as hormonal repair of bilateral cryptorchidism and micropenis remain a challenge in pediatric endocrinology.Methods: In the «REMAP» study ISRCTN13007297 eight neonates and infants, all with bilateral cryptorchidism in intra-abdominal position and micropenis (≤2 cm), with absence of neonatal male-mini puberty were treated for 3 months with ...

hrp0086rfc15.8 | Late Breaking | ESPE2016

Replacement of Male Mini-Puberty

Papadimitriou Dimitrios T. , Chrysis Dionysios , Zoupanos Georgios , Nyktari Georgia , Liakou Eleni , Papadimitriou Anastasios

Background: Hormonal replacement in boys with congenital HH remains a challenge. Micropenis has been traditionally successfully treated with 3 monthly injections of testosterone enanthate before the age of 2, but when bilateral cryptorchidism coincides, surgery is required. But even after a successful surgery, the hypoplastic testes with the deficient proliferation of immature Sertoli cells, due mainly to the lack of the male mini-puberty in the neonatal period as well as the ...