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. 2021 Feb;94(2):277-289.
doi: 10.1111/cen.14355. Epub 2020 Dec 21.

Clinical lessons learned in constitutional hypopituitarism from two decades of experience in a large international cohort

Nicolas Jullien  1 , Alexandru Saveanu  2   3   4   5 , Julia Vergier  6 , Emeline Marquant  6 , Marie Helene Quentien  2 , Frederic Castinetti  2   3   4 , Noémie Galon-Faure  7 , Raja Brauner  8 , Zinet Marrakchi Turki  9 , Maité Tauber  10 , Mohamed El Kholy  11 , Agnès Linglart  12 , Patrice Rodien  13 , Nora Soumeya Fedala  14 , Ignacio Bergada  15 , Christine Cortet-Rudelli  16 , Michel Polak  17 , Marc Nicolino  18 , Chantal Stuckens  19 , Anne Barlier  2   3   4   5 , Thierry Brue  2   3   4 , Rachel Reynaud  2   4   6 ; Genhypopit Network
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Clinical lessons learned in constitutional hypopituitarism from two decades of experience in a large international cohort

Nicolas Jullien et al. Clin Endocrinol (Oxf). 2021 Feb.

Abstract

Context: The international GENHYPOPIT network collects phenotypical data and screens genetic causes of non-acquired hypopituitarism VSports手机版. .

Aims: To describe main phenotype patterns and their evolution through life. V体育安卓版.

Design: Patients were screened according to their phenotype for coding sequence variations in 8 genes: HESX1, LHX3, LHX4, PROP1, POU1F1, TBX19, OTX2 and PROKR2. V体育ios版.

Results: Among 1213 patients (1143 index cases), the age of diagnosis of hypopituitarism was congenital (24%), in childhood (28%), at puberty (32%), in adulthood (7. 2%) or not available (8. 8%). Noteworthy, pituitary hormonal deficiencies kept on evolving during adulthood in 49 of patients. Growth Hormone deficiency (GHD) affected 85. 8% of patients and was often the first diagnosed deficiency. AdrenoCorticoTropic Hormone deficiency rarely preceded GHD, but usually followed it by over 10 years. Pituitary Magnetic Resonance Imaging (MRI) abnormalities were common (79 VSports最新版本. 7%), with 39. 4% pituitary stalk interruption syndrome (PSIS). The most frequently associated extrapituitary malformations were ophthalmological abnormalities (16. 1%). Prevalence of identified mutations was 7. 3% of index cases (84/1143) and 29. 5% in familial cases (n = 146). Genetic analysis in 449 patients without extrapituitary phenotype revealed 36 PROP1, 2 POU1F1 and 17 TBX19 mutations. .

Conclusion: This large international cohort highlights atypical phenotypic presentation of constitutional hypopituitarism, such as post pubertal presentation or adult progression of hormonal deficiencies. These results justify long-term follow-up, and the need for systematic evaluation of associated abnormalities. Genetic defects were rarely identified, mainly PROP1 mutations in pure endocrine phenotypes V体育平台登录. .

Keywords: ACTH deficiency; HESX1; LHX3; LHX4; Next-Generation Sequencing; OTX2; POU1F1; PROKR2; PROP1; TBX19; candidate gene approach; central hypothyroidism; congenital hypopituitarism; genetic screening; growth hormone deficiency; hypogonadotroph hypogonadism; ocular defect; panhypopituitarism; pituitary development; pituitary stalk interruption; transcription factor. VSports注册入口.

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References

REFERENCES

    1. Castinetti F, Reynaud R, Saveanu A, et al. MECHANISMS IN ENDOCRINOLOGY: an update in the genetic aetiologies of combined pituitary hormone deficiency. Eur J Endocrinol. 2016;174(6):R239-R247.
    1. Dateki S, Fukami M, Uematsu A, et al. Mutation and gene copy number analyses of six pituitary transcription factor genes in 71 patients with combined pituitary hormone deficiency: identification of a single patient with LHX4 deletion. J Clin Endocrinol Metab. 2010;95(8):4043-4047.
    1. Lemos MC, Gomes L, Bastos M, et al. PROP1 gene analysis in Portuguese patients with combined pituitary hormone deficiency. Clin Endocrinol (Oxf). 2006;65(4):479-485.
    1. McLennan K, Jeske Y, Cotterill A, et al. Combined pituitary hormone deficiency in Australian children: clinical and genetic correlates. Clin Endocrinol (Oxf). 2003;58(6):785-794.
    1. Rainbow LA, Rees SA, Shaikh MG, et al. Mutation analysis of POUF-1, PROP-1 and HESX-1 show low frequency of mutations in children with sporadic forms of combined pituitary hormone deficiency and septo-optic dysplasia. Clin Endocrinol (Oxf). 2005;62(2):163-168.

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