Pituitary stalk interruption syndrome (PSIS) is a rare congenital abnormality of the pituitary gland. It associated with either isolated growth hormone deficiency or combined (CPHD). Neonatal PSIS extremely and difficult to diagnose can be life threatening if diagnosed late. In this manuscript, we descripted case neonatal who treated at department ofPediatric Endocrinology atHassan II Universit...

BACKGROUND/AIMS Short stature is a common reason for presentation to pediatric endocrinology clinics. However, for most patients, no cause for the short stature can be identified. As genetics plays a strong role in height, we sought to identify known and novel genetic causes of short stature. METHODS We recruited 14 children with severe short stature of unknown etiology. We conducted whole ex...

Germline mutations in SPRTN cause Ruijs-Aalfs syndrome (RJALS), a disorder characterized by genome instability, progeria and early onset hepatocellular carcinoma. Spartan, the protein encoded by SPRTN, is a nuclear metalloprotease that is involved in the repair of DNA-protein crosslinks (DPCs). Although Sprtn hypomorphic mice recapitulate key progeroid phenotypes of RJALS, whether this model ex...

Nucleotide excision DNA repair (NER) pathway mutations cause neurodegenerative and progeroid disorders (xeroderma pigmentosum (XP), Cockayne syndrome (CS) and trichothiodystrophy (TTD)), which are inexplicably associated with (XP) or without (CS/TTD) cancer. Moreover, cancer progression occurs in certain patients, but not others, with similar C-terminal mutations in the XPB helicase subunit of ...

Germline mutations in SPRTN cause Ruijs–Aalfs syndrome (RJALS), a disorder characterized by genome instability, progeria and early onset hepatocellular carcinoma. Spartan, the protein encoded by SPRTN, is a nuclear metalloprotease that is involved in the repair of DNA–protein crosslinks (DPCs). Although Sprtn hypomorphic mice recapitulate key progeroid phenotypes of RJALS, whether this model ex...

background: improving the neonatal health and reducing the neonatal mortality rate is valuable for not only health reasons, but social, psychological and economic reasons. it has advantages not just for the neonatal period of life but for the whole life. unfortunately in iran, in spite of efforts, there has been little success in decreasing the neonatal mortality rate. since investigating the c...