ESPE Yearbook of Paediatric Endocrinology

JCI Insight. 2020 Oct 27;5(23):e134310. doi: 10.1172/jci.insight.134310. PMID: 33108146.Lodge et al. screened 28 patients with pituitary stalk interruption syndrome (PSIS) for mutations in the FAT/DCHS (FAT atypical cadherin/ Dachsous cadherin-related) family of protocadherins. FAT2 and DCHS2 putative damaging variants were found in 6/28 patients with ectopic ...

J Biochem. 2020 Sep 1;168(3):305-312. doi: doi: 10.1093/jb/mvaa050. PMID: 32302394.This study shows that mice mitochondrial regulatory gene Mitol-deficient mice display reduced growth in combination with anterior pituitary hypoplasia and reduced growth hormone levels.MITOL encodes a ubiquitin ligase. Ablation of Mitol in nestin-expressing cells ...

Clin Genet. 2020 Sep;98(3):303-307. doi: 10.1111/cge.13805. PMID: 32617964.In this case series, David et al. describe clinical features of 4 patients in 2 unrelated consanguineous families with TTC26 ciliopathy due to a homozygous c.695A>G p.Asn232Ser mutation. Three of the patients had MRI findings consistent with pituitary stalk interruption syndrome (PSIS), a congenital anomaly o...

Clin Endocrinol (Oxf). 2021 Feb;94(2):269–276. doi: 10.1111/cen.14353. PMID: 33098093.Every clinician encounters sometimes tricky incidentalomas, i.e., non-symptom-related imaging findings that are a consequence of increased availability and resolution of radiologic imaging.This study evaluated pediatric pituitary incidentalomas (PIs). Pituitary microadenomas...

Endocr J. 2021 Apr 3. doi: 10.1507/endocrj.EJ21-0050. PMID: 33814485.Mizue Fujii and colleagues retrospectively evaluated the pituitary function in 67 and 111 adult patients with Rathke’s cleft cyst (RCC) and non-functioning pituitary adenoma (NFA), respectively. The study population represented consecutive patients encountered in their institute. They found that RCCs were smaller t...

Pituitary. 2020 Aug;23(4):381-388. doi: 10.1007/s11102-020-01042-2. PMID: 32388804.Bhimani and colleagues analysed the National Cancer Institute’s register data of pediatric and adult patients to describe patient demographics and management of intracranial germinomas, reporting the largest case series (n=92) to date.In their cohort, pediatric patient...

J Clin Endocrinol Metab. 2021 Jan 23;106(2):351–363. doi: 10.1210/clinem/dgaa857. PMID: 33236116.Here, the authors report the long−term outcomes of all 17 known, well−investigated cases of pituitary blastoma. The median age at diagnosis was 11 months, and the most frequent presentations were Cushing syndrome (n=10), cranial nerve palsies including ophthalmoplegia (...

Pituitary. 2021 Jun;24(3):465–481. doi: 10.1007/s11102-021-01148-1. PMID: 33939057.Frara et al. review the main endocrine manifestations of COVID-19 with its implications for pituitary diseases. The authors report on the possible direct and indirect involvement of the pituitary gland in COVID-19 infection, and also the impact of COVID-19 on the management of pituitary dise...

JAMA Netw Open. 2021 May 3;4(5):e219878. doi: 10.1001/jamanetworkopen.2021.987.Ferreira et al. assessed postnatal growth and possible hypopituitarism at the age of 27 months in 65 children with microcephaly (head circumference, HC, < -2 S.D.) associated with congenital Zika virus (CZV) infection. Despite short stature, marked microcephaly and severe brain abnorm...

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