ESPE Abstracts

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...

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 ...

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 ...

Introduction: The assessment of bone maturation with artificial intelligence (AI) has introduced new straightforward indicators of bone health monitoring related the much more complex and expensive method of measuring bone density with DEXA (Dual-Energy X-Ray Absorptiometry). Bone Health Index (BHI) describes bone mass as a function of cortical thickness, width and length of the three middle metacarpals, using digital hand X-rays for bone age evaluation from D...

Third generation AIs have been repurposed as an off-label treatment in boys and girls, as they can retard closure of the epiphysial plate expanding the period of growth. Assessment of digital hand X-rays has introduced new follow-up indexes of bone health: Bone Health Index (BHI) from DICOM files describes bone mass as a function of cortical thickness, and Metacarpal Index (MCI) from digitized files expresses the cortical thickness standardized for the outer bone diameter at t...

Introduction: Intracranial germ cell tumors (GCTs) are rare and likely to present with peripheral precocious puberty (PPP). We report the case of a 5-year-old boy with pineal GCT, in whom, although he presented with advanced peripheral precocious puberty, levels of β-chorionic gonadotropin (β-HCG) were mildly elevated, not diagnostic of GCT, posing a diagnostic dilemma.Methods: A 53/12 year- old boy ...