scholarly journals A Large PROP1 Gene Deletion in a Turkish Pedigree

2018 ◽  
Vol 2018 ◽  
pp. 1-5 ◽  
Author(s):  
Suheyla Gorar ◽  
Doga Turkkahraman ◽  
Kanay Yararbas
Keyword(s):  
Genetic Analysis ◽  
Empty Sella ◽  
Hormone Deficiency ◽  
Bright Spot ◽  
Pituitary Hormone ◽  
Coding Region ◽  
Gene Encoding ◽  
Acth Deficiency ◽  
Pituitary Hormone Deficiency ◽  
Prop1 Gene

Pituitary-specific paired-like homeodomain transcription factor, PROP1, is associated with multiple pituitary hormone deficiency. Alteration of the gene encoding the PROP1 may affect somatotropes, thyrotropes, and lactotropes, as well as gonadotropes and corticotropes. We performed genetic analysis of PROP1 gene in a Turkish pedigree with three siblings who presented with short stature. Parents were first degree cousins. Index case, a boy, had somatotrope, gonadotrope, thyrotrope, and corticotrope deficiency. However, two elder sisters had somatotroph, gonadotroph, and thyrotroph deficiency and no corticotroph deficiency. On pituitary magnetic resonance, partial empty sella was detected with normal bright spot in all siblings. In genetic analysis, we found a gross deletion involving PROP1 coding region. In conclusion, we report three Turkish siblings with a gross deletion in PROP1 gene. Interestingly, although little boy with combined pituitary hormone deficiency has adrenocorticotropic hormone (ACTH) deficiency, his elder sisters with the same gross PROP1 deletion have no ACTH deficiency. This finding is in line with the fact that patients with PROP1 mutations may have different phenotype/genotype correlation.

Clinical course and management of pembrolizumab-associated isolated adrenocorticotrophic hormone deficiency: a new case and literature review

Immunotherapy ◽  
2021 ◽  
Author(s):  
Seda Hanife Oğuz ◽  
Uğur Ünlütürk ◽  
Sercan Aksoy ◽  
Tomris Erbas
Keyword(s):  
Clinical Symptoms ◽  
Hormone Deficiency ◽  
Bright Spot ◽  
Pituitary Hormone ◽  
Adrenocorticotrophic Hormone ◽  
Mri Findings ◽  
Acth Deficiency ◽  
Anterior Pituitary Hormone ◽  
Morning Cortisol ◽  
Symptoms And Signs

Hypophysitis is rarely reported in patients receiving pembrolizumab-only immunotherapies. Since the clinical presentation is usually as isolated adrenocorticotrophic hormone (ACTH) deficiency, patients may be misjudged as having clinical symptoms due to cancer or chemotherapy. A 49-year-old male with laryngeal cancer applied to our clinic just after the tenth cycle of his pembrolizumab treatment, with weakness and nausea/vomiting. Serum morning cortisol and ACTH were 0.47 mcg/dl and 10.1 pg/ml, respectively; the remaining anterior pituitary hormone levels were normal. Pituitary MRI revealed mild glandular enlargement and loss of posterior pituitary bright-spot. All symptoms and signs improved with low-dose prednisolone. This is the second reported case of pembolizumab-associated isolated ACTH deficiency having abnormal pituitary MRI findings as we have reviewed all reported cases in the literature.

The c.301_302delAG PROP1 gene mutation in Romanian patients with multiple pituitary hormone deficiency

2015 ◽  
Vol 28 (9-10) ◽  
Author(s):  
Cecilia Lazea ◽  
Paula Grigorescu-Sido ◽  
Radu Popp ◽  
Marie Legendre ◽  
Serge Amselem ◽  
...  
Keyword(s):  
High Frequency ◽  
Bone Age ◽  
Hormone Deficiency ◽  
Pituitary Hormone ◽  
Homozygous State ◽  
Pituitary Hormone Deficiency ◽  
Homozygous Genotype ◽  
Familial Form ◽  
History Of ◽  
Prop1 Gene

AbstractTo establish the frequency of the c.301_302 delAG mutation of theSomatic assessment, hormonal test, bone age, magnetic resonance imaging of the pituitary gland, and molecular diagnosis were performed in 26 patients with MPHD (7 patients with familial form of MPHD and 19 patients with sporadic form of MPHD).The c.301_302delAG mutation was detected in the homozygous state in 10 patients belonging to 5 unrelated families (7 patients with familial history of MPHD and 3 patients with sporadic form of MPHD). Those 10 patients presented variable pituitary hormone deficiency and pituitary morphology.The c.301_302delAG homozygous genotype had a high frequency of 38% (10/26), reaching 100% (7/7) in group with familial cases of MPHD and 16% (3/19) in group with sporadic forms of MPHD.

scholarly journals Molecular analysis of the PROP1 and HESX1 genes in patients with septo-optic dysplasia and/or pituitary hormone deficiency

2010 ◽  
Vol 54 (5) ◽  
pp. 482-487 ◽  
Author(s):  
Juliana B. Cruz ◽  
Vania S. Nunes ◽  
Sueli A. Clara ◽  
Denise Perone ◽  
Peter Kopp ◽  
...  
Keyword(s):  
Gene Mutations ◽  
Genetic Alterations ◽  
Hormone Deficiency ◽  
Pituitary Hormone ◽  
Pituitary Hormone Deficiency ◽  
Exon 1 ◽  
Genetic Mechanisms ◽  
Direct Sequence Analysis ◽  
Prop1 Gene ◽  
Pathogenic Process

OBJECTIVE: The present study aimed at evaluating the PROP1 and HESX1 genes in a group of patients with septo-optic dysplasia (SOD) and pituitary hormone deficiency (combined - CPHD; isolated GH deficiency - GHD). Eleven patients with a clinical and biochemical presentation consistent with CPHD, GHD or SOD were evaluated. SUBJECTS AND METHODS: In all patients, the HESX1 gene was analyzed by direct sequence analysis and in cases of CPHD the PROP1 gene was also sequenced. RESULTS: A polymorphism (1772 A > G; N125S) was identified in a patient with SOD. We found three patients carrying the allelic variants 27 T > C; A9A and 59 A > G; N20S in exon 1 of the PROP1 gene. Mutations in the PROP1 and HESX1 genes were not identified in these patients with sporadic GHD, CPHD and SOD. CONCLUSION: Genetic alterations in one or several other genes, or non-genetic mechanisms, must be implicated in the pathogenic process.

scholarly journals PROP1 gene analysis in Portuguese patients with combined pituitary hormone deficiency

2006 ◽  
Vol 65 (4) ◽  
pp. 479-485 ◽  
Author(s):  
Manuel C. Lemos ◽  
Leonor Gomes ◽  
Margarida Bastos ◽  
Valeriano Leite ◽  
Edward Limbert ◽  
...  
Keyword(s):  
Gene Analysis ◽  
Hormone Deficiency ◽  
Pituitary Hormone ◽  
Pituitary Hormone Deficiency ◽  
Combined Pituitary Hormone Deficiency ◽  
Prop1 Gene

scholarly journals PROP1 Gene Screening in Patients with Multiple Pituitary Hormone Deficiency Reveals Two Sites of Hypermutability and a High Incidence of Corticotroph Deficiency

2001 ◽  
Vol 86 (9) ◽  
pp. 4529-4535 ◽  
Author(s):  
S. Vallette-Kasic ◽  
A. Barlier ◽  
C. Teinturier ◽  
A. Diaz ◽  
M. Manavela ◽  
...  
Keyword(s):  
Point Mutations ◽  
Hormone Deficiency ◽  
Heterozygous Mutation ◽  
Pituitary Hormone ◽  
Gene Encoding ◽  
Exon 2 ◽  
High Incidence ◽  
Prop1 Gene ◽  
Gene Alterations

Alterations of the gene encoding the pituitary transcription factor PROP1 were associated with congenital forms of multiple pituitary hormone deficiencies in several families. Among 23 patients with multiple pituitary hormone deficiencies screened for a PROP1 gene abnormality, nine belonging to eight unrelated families had homozygous PROP1 gene defects. All mutations were located in exon 2 and affected only two different sites: a homozygous AG deletion at codons 99/100/101 (n = 5); homozygous point mutations affecting codon 73: R73C (n = 2) or R73H (n = 1), and a R73C/R99X double-heterozygous mutation (n= 1). R73H and R99X were never described. All patients were born to unaffected parents, and consanguinity was documented in two patients. They had complete GH, LH-FSH, and TSH deficiencies and normal basal levels of PRL. Delayed ACTH deficiency was diagnosed in four of nine patients. At magnetic resonance imaging the anterior pituitary was hypoplastic in seven patients and hyperplastic in two. This study found two novel mutations (R73H and R99X) and underlines the high incidence of PROP1 gene alterations in patients with multiple pituitary hormone deficiencies. A corticotroph deficiency was frequently observed in association with GH, TSH, and gonadotropin deficiencies and should be carefully sought during follow-up.

Sign in / Sign up

Export Citation Format

Share Document