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Diagnosis and Management of Central Congenital Hypothyroidism.
Lauffer P, Zwaveling-Soonawala N, Naafs JC, Boelen A, van Trotsenburg ASP. Lauffer P, et al. Front Endocrinol (Lausanne). 2021 Sep 9;12:686317. doi: 10.3389/fendo.2021.686317. eCollection 2021. Front Endocrinol (Lausanne). 2021. PMID: 34566885 Free PMC article. Review.
Central congenital hypothyroidism (CH) is defined as thyroid hormone (TH) deficiency at birth due to insufficient stimulation by the pituitary of the thyroid gland. The incidence of central CH is currently estimated at around 1:13,000. ...For CPHD the etiology usually rema …
Central congenital hypothyroidism (CH) is defined as thyroid hormone (TH) deficiency at birth due to insufficient stimulation by the pitu …
Pituitary stalk interruption syndrome: cause, clinical manifestations, diagnosis, and management.
Voutetakis A, Sertedaki A, Dacou-Voutetakis C. Voutetakis A, et al. Curr Opin Pediatr. 2016 Aug;28(4):545-50. doi: 10.1097/MOP.0000000000000378. Curr Opin Pediatr. 2016. PMID: 27386973 Review.
PURPOSE OF REVIEW: Pituitary stalk interruption syndrome (PSIS) is characterized by a thin or absent pituitary stalk, hypoplasia of the adenohypophysis, and ectopic neurohypophysis. PSIS manifestations include a wide spectrum of clinical …
PURPOSE OF REVIEW: Pituitary stalk interruption syndrome (PSIS) is characterized by a thin or absent pituitar …
Clinical and genetic characteristics of Dutch children with central congenital hypothyroidism, early detected by neonatal screening.
Naafs JC, Verkerk PH, Fliers E, van Trotsenburg ASP, Zwaveling-Soonawala N. Naafs JC, et al. Eur J Endocrinol. 2020 Dec;183(6):627-636. doi: 10.1530/EJE-20-0833. Eur J Endocrinol. 2020. PMID: 33107432
This included patients with isolated central CH but the majority have multiple pituitary hormone deficiencies (MPHD). DESIGN: Nationwide, cross-sectional study. ...Sixty-one patients (50 MPHD) had been hospitalized before screening results were reported, but central CH was …
This included patients with isolated central CH but the majority have multiple pituitary hormone deficiencies (MPHD). DESIGN: Nationw …
Growth and Adult Height during Human Growth Hormone Treatment in Chinese Children with Multiple Pituitary Hormone Deficiency Caused by Pituitary Stalk Interruption Syndrome: A Single Centre Study.
Wang F, Han J, Wang Z, Shang X, Li G. Wang F, et al. J Clin Res Pediatr Endocrinol. 2020 Mar 19;12(1):71-78. doi: 10.4274/jcrpe.galenos.2019.2019.0086. Epub 2019 Sep 2. J Clin Res Pediatr Endocrinol. 2020. PMID: 31475508 Free PMC article.
OBJECTIVE: The aim was to assess growth velocity (GV) during human recombinant growth hormone (hGH) treatment of children with multiple pituitary hormone deficiency (MPHD) caused by pituitary stalk interruption syndrome (PSIS) and to analyze the …
OBJECTIVE: The aim was to assess growth velocity (GV) during human recombinant growth hormone (hGH) treatment of children with multiple p …
Pituitary stalk interruption syndrome: diagnostic delay and sensitivity of the auxological criteria of the growth hormone research society.
Gascoin-Lachambre G, Brauner R, Duche L, Chalumeau M. Gascoin-Lachambre G, et al. PLoS One. 2011 Jan 27;6(1):e16367. doi: 10.1371/journal.pone.0016367. PLoS One. 2011. PMID: 21298012 Free PMC article.
OBJECTIVES: To study the diagnostic delay for pituitary stalk interruption syndrome (PSIS) with growth hormone deficiency (GHD) and the sensitivity of the auxological criteria of the Growth Hormone Research Society (GHRS) consensus guidelines. ...RESUL …
OBJECTIVES: To study the diagnostic delay for pituitary stalk interruption syndrome (PSIS) with growth hormone d …
Genetic screening of combined pituitary hormone deficiency: experience in 195 patients.
Reynaud R, Gueydan M, Saveanu A, Vallette-Kasic S, Enjalbert A, Brue T, Barlier A. Reynaud R, et al. J Clin Endocrinol Metab. 2006 Sep;91(9):3329-36. doi: 10.1210/jc.2005-2173. Epub 2006 May 30. J Clin Endocrinol Metab. 2006. PMID: 16735499
A mutation of LHX4 gene, previously reported, was found in one familial case from 39 patients bearing pituitary stalk interruption syndrome. In 109 patients without extrapituitary abnormalities, 20 had PROP1 mutations, including eight patients with a f …
A mutation of LHX4 gene, previously reported, was found in one familial case from 39 patients bearing pituitary stalk inter …