Extreme Short Stature and Severe Neurological Impairment in a 17-Year-Old Male With Untreated Combined Pituitary Hormone Deficiency Due to POU1F1 Mutation
نویسندگان
چکیده
منابع مشابه
Multiple Pituitary Hormone Deficiency Due to Gunshot Injury in a 6-Year-Old Girl
Gunshot injuries (GSI) of the cranial area have an extremely high mortality rate. Herein, we present a girl who has been living with a bullet in the posterior sellar region. A 6-year-old girl was admitted with complaints of headache, polyuria and polydypsia, which started after a GSI. At the time of admission the patient's anthropometric, physical and neurological examinations were normal. Urin...
متن کاملMRI features of growth hormone deficiency in children with short stature caused by pituitary lesions
We verified the advantages of using magnetic resonance imaging (MRI) for improving the diagnostic quality of growth hormone deficiency (GHD) in children with short stature caused by pituitary lesions. Clinical data obtained from 577 GHD patients with short stature caused by pituitary lesions were retrospectively analyzed. There were 354 cases (61.3%) with anterior pituitary dysplasia; 45 cases ...
متن کاملBaseline Body Composition in Prepubertal Short Stature Children with Severe and Moderate Growth Hormone Deficiency
Objective. To compare body composition parameters in short children with severe versus moderate and no growth hormone deficiency (GHD). Design and Method. 61 children (40 boys) were studied. Height SDS, BMI Z-score, waist/height ratio (W/HtR), and body composition parameters (BIA) as fat tissue (FAT%), fat-free mass (FFM%), predicted muscle mass (PMM%), and total body water (TBW%) were evaluate...
متن کاملIntussusceptions due to trauma in a 17-month-old infant
Invagination is a kind of intestine disease in children and it is occurred between 2 upto 14 years old. This is a report of 17 months infant with intussusception due to trauma. The patient had admitted to emergency department because of motor vehicle accident and because of abdominal pain, abdominal computed tomography (CT) scan was done.
متن کاملShort stature due to SHOX deficiency: genotype, phenotype, and therapy.
SHOX deficiency is a frequent cause of short stature. The short stature homeobox-containing gene resides in the telomeric PAR1 region on the short arm of both sex chromosomes and escapes X inactivation. For this review, abstracts of 207 publications presented by PubMed for the search term 'SHOX' were screened. Heterozygote SHOX mutations (80% deletions) were detected in 2-15% of individuals wit...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Frontiers in Endocrinology
سال: 2019
ISSN: 1664-2392
DOI: 10.3389/fendo.2019.00381