A Novel Mutation in OTX2 Causes Combined Pituitary Hormone Deficiency, Bilateral Microphthalmia, and Agenesis of the Left Internal Carotid Artery

2016 ◽  
Vol 86 (1) ◽  
pp. 62-69 ◽  
Author(s):  
Aya Shimada ◽  
Masaki Takagi ◽  
Yuka Nagashima ◽  
Kentaro Miyai ◽  
Yukihiro Hasegawa
Keyword(s):  
Carotid Artery ◽  
Internal Carotid Artery ◽  
Internal Carotid ◽  
Novel Mutation ◽  
Hormone Deficiency ◽  
Left Internal Carotid Artery ◽  
Pituitary Hormone ◽  
Pituitary Hormone Deficiency ◽  
Combined Pituitary Hormone Deficiency

scholarly journals A Case of Multiple Pituitary Hormone Deficiency with Anomaly of Internal Carotid Artery

1996 ◽  
Vol 5 (Supple8) ◽  
pp. 127-128 ◽  
Author(s):  
Ryuuzou Takaya ◽  
Masakuni Tokuda ◽  
Shuichi Shimakawa ◽  
Shuhei Suzuki ◽  
Kazutaka Konishi ◽  
...  
Keyword(s):  
Carotid Artery ◽  
Internal Carotid Artery ◽  
Internal Carotid ◽  
Hormone Deficiency ◽  
Pituitary Hormone ◽  
Multiple Pituitary Hormone Deficiency ◽  
Pituitary Hormone Deficiency

scholarly journals Identification of a Novel PROP1 Mutation in a Patient with Combined Pituitary Hormone Deficiency and Enlarged Pituitary

2019 ◽  
Vol 20 (8) ◽  
pp. 1875 ◽  
Author(s):  
Laura Penta ◽  
Carla Bizzarri ◽  
Michela Panichi ◽  
Antonio Novelli ◽  
Francesca Romana Lepri ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Deficiency ◽  
Novel Mutation ◽  
Pituitary Hormones ◽  
Hormone Deficiency ◽  
Pituitary Hormone ◽  
Pituitary Hormone Deficiency ◽  
Combined Pituitary Hormone Deficiency ◽  
Familial Cases ◽  
Number Of Patients

Growth hormone deficiency (GHD) can be present from the neonatal period to adulthood and can be the result of congenital or acquired insults. In addition, GHD can be classified into two types: isolated growth hormone deficiency (IGHD) and combined pituitary hormone deficiency (CPHD). CPHD is a disorder characterized by impaired production of two or more anterior and/or posterior pituitary hormones. Many genes implicated in CPHD remain to be identified. Better genetic characterization will provide more information about the disorder and result in important genetic counselling because a number of patients with hypopituitarism represent familial cases. To date, PROP1 mutations represent the most common known genetic cause of CPHD both in sporadic and familial cases. We report a novel mutation in the PROP1 gene in an infant with CPHD and an enlarged pituitary gland. Close long-term follow-up will reveal other possible hormonal defects and pituitary involution.

scholarly journals A Novel Mutation in the LHX3 Gene is Responsible for Combined Pituitary Hormone Deficiency, Hearing Impairment, and Vertebral Malformations

Endocrinology ◽  
2009 ◽  
Vol 150 (2) ◽  
pp. 1069-1069 ◽  
Author(s):  
Berit Kriström ◽  
Anna-Maija Zdunek ◽  
Anders Rydh ◽  
Håkan Jonsson ◽  
Petra Sehlin ◽  
...  
Keyword(s):  
Hearing Impairment ◽  
Novel Mutation ◽  
Hormone Deficiency ◽  
Splice Acceptor Site ◽  
Candidate Gene Approach ◽  
Pituitary Hormone ◽  
Acceptor Site ◽  
Pituitary Hormone Deficiency ◽  
Combined Pituitary Hormone Deficiency ◽  
Neck Rotation

Abstract Context: The LHX3 LIM-homeodomain transcription factor gene, found in both man and mouse, is required for development of the pituitary and motor neurons and is also expressed in the auditory system. Objective: The objective of this study was to determine the cause of, and further explore, the phenotype in six patients (aged 6 months to 22 years) with combined pituitary hormone deficiency (CPHD), restricted neck rotation, scoliosis and congenital hearing impairment. Three of the patients also have mild autistic-like behaviour. Design: As patients with CPHD and restricted neck rotation have previously been shown to have mutations in the LHX3 gene, a candidate gene approach was applied and the gene was sequenced. Neck anatomy was explored by computed tomography and magnetic resonance imaging, including three-dimensional reformatting. Results: A novel, recessive, splice-acceptor site mutation was found. The predicted protein encoded by the mutated gene lacks the homeodomain and carboxyl terminus of the normal, functional protein. Genealogical studies revealed a common gene source for all six families dating back to the seventeenth century. Anatomical abnormalities in the occipito–atlanto–axial joints in combination with a basilar impression of the dens axis were found in all patients assessed. Conclusions: This study extends both the mutations known to be responsible for LHX3-associated syndromes and their possible phenotypic consequences. Previously reported traits include CPHD and restricted neck rotation; patients examined in the present study also show a severe hearing defect. Additionally the existence of cervical vertebral malformations are revealed, responsible for the rigid neck and the development of scoliosis.

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