Olgu Sunumu

Two sisters with homozygous deletion mutation in the PROP-1 gene

Cilt: 59 Sayı: 4 30 Aralık 2020
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Two sisters with homozygous deletion mutation in the PROP-1 gene

Abstract

Defects in the PROP-1 gene produce clinical findings by affecting somatotrophs, thyrotrophs, lactotrophs, gonadotrophs and corticotrophs. The first finding in cases with PROP-1 gene mutation is growth retardation associated with growth hormone (GH) deficiency and central hypothyroidism. Other hormone deficiencies are added over time. We describe two sisters with deletion mutation in the PROP-1 gene. The parents were first-degree cousins. The female patient identified as the index case was 4.6 and the other sister was 1.9 years old when they presented with failure to thrive and short stature. Central hypothyroidism and GH deficiency was determined in both sisters. Homozygous deletion mutation was determined in the PROP-1 gene at genetic analysis. PROP-1 mutation should be considered in patients presenting with combined GH deficiency and central hypothyroidism, and the diagnosis must be confirmed with genetic analysis.

Keywords

Kaynakça

  1. Böttner A, Keller E, Kratzsch J, et al. PROP1 mutations cause progressive deterioration of anterior pituitary function including adrenal insufficiency: a longitudinal analysis. J Clin Endocrinol Metab 2004; 89 (10): 5256-65.
  2. Vieira TC, Boldarine VT, Abucham J. Molecul aranalysis of PROP1, PIT1, HESX1, LHX3, and LHX4 shows high frequency of PROP1 mutations in patients with familial forms of combined pituitary hormone deficiency. Arq Bras Endocrinol Metabol 2007; 51 (7): 1097-103.
  3. Bertko E, Klammt J, Dusatkova P, et al. Combined pituitary hormone deficiency due to gross deletions in the POU1F1 (PIT-1) and PROP1 genes. J Hum Genet 2017; 62 (8): 755-62.
  4. Penta L, Bizzarri C, Panichi M, et al. Identification of a Novel PROP1 Mutation in a Patient with Combined Pituitary Hormone Deficiency and Enlarged Pituitary. Int J Mol Sci 2019; 20 (8): 1875.
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  6. Lau E, Freitas P, Coutinho E, Lemos MC, Carvalho D. Familial combined pituitary hormone deficiency by a mutation in PROP1: 4 of 7 brothers affected. Revista Portuguesa de Endocrinologia, Diabetes e Metabolismo 2016; 11 (1): 41–4.
  7. Deladoëy J, Flück C, Büyükgebiz A, et al. Hot spot in the PROP1 gene responsible for combined pituitary hormone deficiency. J Clin Endocrinol Metab 1999; 84 (5): 1645-50.
  8. Bulut FD, Özdemir Dilek S, Kotan D, Mengen E, Gürbüz F, Yüksel B. Mutations With in the Transcription Factor PROP1 in a Cohort of Turkish Patients with Combined Pituitary Hormone Deficiency. J ClinRes Pediatr Endocrinol 2020; 12 (3): 261-8.

Ayrıntılar

Birincil Dil

İngilizce

Konular

Sağlık Kurumları Yönetimi

Bölüm

Olgu Sunumu

Yazarlar

Özden Öztürk
0000-0001-8558-7901
Türkiye

Yayımlanma Tarihi

30 Aralık 2020

Gönderilme Tarihi

7 Mayıs 2020

Kabul Tarihi

28 Eylül 2020

Yayımlandığı Sayı

Yıl 2020 Cilt: 59 Sayı: 4

DOI

https://doi.org/10.19161/etd.834342

IZ

https://izlik.org/JA59SH26JY

Kaynak Göster

RIS / Bibtex
Vancouver
1.Semih Bolu, Abdulvahit Aşık, Özden Öztürk. Two sisters with homozygous deletion mutation in the PROP-1 gene. ETD. 01 Aralık 2020;59(4):316-9. doi:10.19161/etd.834342

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