ESPE Yearbook of Paediatric Endocrinology

Cell Rep. 2021 Apr 13;35(2):108981. doi: 10.1016/j.celrep.2021.108981. PMID: 33852861.Mutations in the promotor region of the insulin gene are associated with a subtype of neonatal diabetes mellitus (NDM). These mutations lead to abnormal transcription of the insulin gene and do so by deleting the C1 and E1 cis regulatory elements, or three different single base-pair substitutions in ...

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...

J Clin Endocrinol Metab 2021; 106(3):814–825.https://pubmed.ncbi.nlm.nih.gov/33236103/Here, the authors performed a randomized, 12-week, crossover study in order to assess cortisol metabolism during dual-release hydrocortisone (DR-HC) and conventional hydrocortisone (TID-HC) therapy in patients with primary adrenal insufficiency (n=50). Healthy controls (n=124) were i...

J Clin Endocrinol Metab. 2022; 107(1): e264–e271. PMID: 34397083https://pubmed.ncbi.nlm.nih.gov/34397083/ Brief Summary: This prospective cohort study determined plasma epinephrine concentrations in infants with classic CAH, and showed that the lower epinephrine reseve is associated with increased risk of illness.Children and adolescents with classical Congenital ...

Brief summary: In this study the authors reported the adult height and timing of puberty of a cohort of Danish children born small for gestational age (SGA) and treated with rhGH in comparison with national growth standards. rhGH treatment significantly increased height SDS in adulthood as compared to the height SDS at treatment start. Age at peak height velocity did not differ compared with the reference cohort, although peak height velocity was reduced in SGA subjects. SGA b...

Sex Dev. 2021;15(5-6):392-410. PMID: 34634785, doi: 10.1159/000519238. Brief Summary: This review summarizes how non-coding genomic variants are identified and validated, and why non-coding defects found in DSD patients have to be considered when investigating the genetic etiology of DSD.Accurate genetic diagnosis of 46,XY DSD patients remains crucial for early treatment and ...

To read the full abstract: Front. Endocrinol. 2020; 11:106. doi: 10.3389/fendo.2020.00106• The authors assessed the relationship between markers of a stressful environment and final height in adult men and women in 71 countries (including 31 countries that are members of the Organisation for Economic Co-operation and Development [OECD]).• They found that the more stressful the e...

Brief summary: The authors assessed the relationship between markers of a stressful environment and final height in adult men and women in 71 countries (including 31 countries that are members of the Organisation for Economic Co-operation and Development [OECD]). They found that the more stressful the environment, the shorter the adult height. By order of decreasing importance, the relationship between markers of a stressful environment and height were income inequality > ...

Hum Reprod. 2020 Oct 1;35(10):2312–2322. 10.1093/humrep/deaa185. PMID: 32862222. https://academic.oup.com/humrep/article/35/10/2312/5899242In brief: This study shows that both the GnRH stimulation test and serum inhibin B have insufficient specificity to discriminate congenital hypogonadotropic hypogonadism (CHH) from c...

Pituitary. 2021;24(2):252-261. doi: 10.1007/s11102-020-01105-4. PMID: 33156432.Brief Summary: Pituitary gigantism is a rare disease, which can be syndromic, as in McCune-Albright syndrome, Carney complex, MEN1 and MEN4, and the newly described “three P association” (paraganglioma, pheochromocytoma and pituitary adenoma) (1), or non-syndromic caused by mutations ...