Diagnostic Value of Pituitary MRI in Differentiation of Children with Normal Growth Hormone Secretion, Isolated Growth Hormone Deficiency and Multiple Pituitary Hormone Deficiency

2001 ◽  
Vol 14 (5) ◽  
Author(s):  
İ. Arslanoǧlu ◽  
H. Kutlu ◽  
P. İşgüven ◽  
F. Tokuş ◽  
K. Işik
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Deficiency ◽  
Hormone Secretion ◽  
Growth Hormone Secretion ◽  
Normal Growth ◽  
Diagnostic Value ◽  
Hormone Deficiency ◽  
Pituitary Hormone ◽  
Multiple Pituitary Hormone Deficiency ◽  
Pituitary Hormone Deficiency

Body composition and metabolic health of young male adults with childhood-onset multiple pituitary hormone deficiency after cessation of growth hormone treatment

2018 ◽  
Vol 31 (5) ◽  
pp. 533-537 ◽  
Author(s):  
Hongbo Yang ◽  
Linjie Wang ◽  
Xiaonan Qiu ◽  
Kemin Yan ◽  
Fengying Gong ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Body Composition ◽  
Growth Hormone Deficiency ◽  
Fat Mass ◽  
Hormone Deficiency ◽  
Pituitary Hormone ◽  
Childhood Onset ◽  
Multiple Pituitary Hormone Deficiency ◽  
Pituitary Hormone Deficiency ◽  
Male Patients

Abstract Background: Recombinant human growth hormone (rhGH) replacement therapy is usually stopped after linear growth completion in patients with growth hormone deficiency. In patients with multiple pituitary hormone deficiency (MPHD), the long-term effects of discontinuation of rhGH replacement are unknown. Methods: In this study, the anthropometric and metabolic parameters of 24 male patients with adult growth hormone deficiency (AGHD) due to MPHD in childhood after cessation of rhGH therapy for a mean of 7.1 years were measured and compared with 35 age-matched controls. Body composition was evaluated by bioelectrical impedance analysis (BIA). Results: In the AGHD group, body mass index (BMI) was significantly increased and 29.2% had obesity. The AGHD group had a 17.7 cm increase in waist circumference (WC). The fat free mass (FFM) was significantly lower in the AGHD group. Both the fat mass (FM) and percentage of fat mass (FM%) were significantly increased in the AGHD group. Both the systolic blood pressure (BP) and diastolic pressure were significantly lower in AGHD group. The lipid profile was generally similar in both groups, except for a decrease of high density lipoprotein-cholesterol (HDL-C) in the AGHD group. There was significant hyperuricemia in the AGHD group. Conclusions: Cessation of rhGH leads to a significant increase of FM in early adulthood in male patients with childhood-onset MPHD (CO-MPHD).

scholarly journals A Boy with "transient" Growth Hormone Deficiency in Prepubertal Stage Despite Normal Growth Hormone Secretion in Childhood and after Puberty

2007 ◽  
Vol 54 (6) ◽  
pp. 1015-1019
Author(s):  
Ken-ichi KASHIMADA ◽  
Toshikazu ONISHI ◽  
Makoto ONO ◽  
Kentaro MIYAI ◽  
Masayasu OHTA ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Deficiency ◽  
Hormone Secretion ◽  
Growth Hormone Secretion ◽  
Normal Growth ◽  
Hormone Deficiency ◽  
Transient Growth

scholarly journals Genetic background of inherited multiple pituitary hormone deficiency. Mutations of PROP1 gene in Hungary

2011 ◽  
Vol 152 (6) ◽  
pp. 221-232
Author(s):  
Zita Halász
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Deficiency ◽  
Mutational Analysis ◽  
Hot Spot ◽  
Gene Mutations ◽  
Hormone Deficiency ◽  
Pituitary Hormone ◽  
Multiple Pituitary Hormone Deficiency ◽  
Pituitary Hormone Deficiency ◽  
Prop1 Gene

In this work I analysed the outcome of growth hormone replacement treatment in patients with inherited form of multiple pituitary hormone deficiency and examined diseased-causing mutations of pituitary transcription factor genes which may underlie this disorder. The results showed that after treatment for a longer than 7-year period with a growth hormone preparation available under well-controlled distribution, the mean height of children with growth hormone deficiency reached the normal national reference range adjusted for age and sex. After establishment of clinical criteria for screening PROP1 gene mutations, I performed mutational analysis of all coding exons of this gene in 35 patients with inherited form of multiple pituitary hormone deficiency. With these studies, diseases-causing PROP1 gene mutations were detected in 15 of the 35 patients (43%). It was also found that more than 80% of mutant alleles were accounted for by those containing the 150delA and 301-302delGA mutations of the PROP1 gene. Importantly, these findings indicated a high relevance of mutational ”hot spots” of the PROP1 gene in Hungarian patients with inherited form of multiple pituitary hormone deficiency and they also offered an opportunity for the development of rational and cost-effective screening strategy. When clinical and hormonal findings of patients with and without PROP1 gene mutations were compared, results showed that growth hormone deficiency was diagnosed at earlier age of life in patients with PROP1 gene mutations, but the severity of growth retardation at the time of diagnosis of growth hormone deficiency or the age of patients at the time of manifestation of other pituitary hormone deficiencies (TSH, LH, FSH and ACTH) were similar in the two groups of patients. In 15 patients inherited form of multiple pituitary hormone deficiency who had no PROP1 gene mutations, exon 6 of the POU1F1 gene containing a mutational ”hot spot” was also examined but no mutations were found. Thus, these results do not support a significant role of the mutational ”hot spot” of the POU1F1 gene in Hungarian patients with inherited form of multiple pituitary hormone deficiency. Finally, I introduced a method for the detection of mutations of the PITX2 gene, a pituitary transcription factor that plays a role not only in pituitary development and differentiation but also in the lateralization of organs. With the use of this method, I performed mutational analysis of all coding exons of this gene in an exceptionally unique patient who had both situs inversus totalis and inherited form of multiple pituitary hormone deficiency, but no mutation was found. Thus, the findings in this patient failed to indicate that mutation of the PITX2 gene is involved in the pathomechanism of situs inversus totalis associated with inherited form of multiple pituitary hormone deficiency. Orv. Hetil., 2011, 152, 221–232.

Pituitary volume in children with growth hormone deficiency, idiopathic short stature and controls

2016 ◽  
Vol 29 (10) ◽  
Author(s):  
Marion Kessler ◽  
Michael Tenner ◽  
Michael Frey ◽  
Richard Noto
Keyword(s):  
Growth Hormone ◽  
Magnetic Resonance ◽  
Growth Hormone Deficiency ◽  
Short Stature ◽  
Hormone Secretion ◽  
Growth Hormone Secretion ◽  
Magnetic Resonance Images ◽  
Idiopathic Short Stature ◽  
Hormone Deficiency ◽  
Significant Difference

AbstractBackground:The objective of the study was to describe the pituitary volume (PV) in pediatric patients with isolated growth hormone deficiency (IGHD), idiopathic short stature (ISS) and normal controls.Methods:Sixty-nine patients (57 male, 12 female), with a mean age of 11.9 (±2.0), were determined to have IGHD. ISS was identified in 29 patients (20 male, 9 female), with a mean age of 12.7 (±3.7). Sixty-six controls (28 female, 38 male), mean age 9.8 (±4.7) were also included. Three-dimensional (3D) magnetic resonance images with contrast were obtained to accurately measure PV.Results:There was a significant difference in the mean PV among the three groups. The IGHD patients had a mean PV 230.8 (±89.6), for ISS patients it was 286.8 (±108.2) and for controls it was 343.7 (±145.9) (p<0.001). There was a normal increase in PV with age in the ISS patients and controls, but a minimal increase in the IGHD patients.Conclusions:Those patients with isolated GHD have the greatest reduction in PV compared to controls and the patients with ISS fall in between. We speculate that a possible cause for the slowed growth in some ISS patients might be related to diminished chronic secretion of growth hormone over time, albeit having adequate pituitary reserves to respond acutely to GH stimulation. Thus, what was called neurosecretory GHD in the past, might, in some patients, be relative pituitary hypoplasia and resultant diminished growth hormone secretion. Thus, PV determinations by magnetic resonance imaging (MRI) could assist in the diagnostic evaluation of the slowly growing child.

Marked phenotypic variable expression among brothers with duplication of Xq27.1 involving the SOX3 gene

2020 ◽  
Vol 33 (3) ◽  
pp. 443-447 ◽  
Author(s):  
Elizabeth T. Rosolowsky ◽  
Robert Stein ◽  
Seth D. Marks ◽  
Norma Leonard
Keyword(s):  
Growth Hormone ◽  
Mental Retardation ◽  
Growth Hormone Deficiency ◽  
Hormone Deficiency ◽  
Pharyngeal Arch ◽  
Pituitary Hormone ◽  
Facial Dysmorphisms ◽  
Pituitary Hormone Deficiency ◽  
Variable Expression ◽  
Sox3 Gene

AbstractWe describe four phenotypically different brothers who share the same microduplication of Xq27.1, which contains the SOX3 gene. SOX3 mutations have been associated with growth hormone deficiency, variable degrees of additional pituitary hormone deficiencies, and mental retardation. SOX3 also appears to play an important role in pharyngeal arch segmentation that gives rise to craniofacial structures. While these four brothers have inherited the same mutation, they manifest a spectrum of phenotypes, ranging from complete, multiple pituitary hormone deficiencies to no apparent pituitary hormone deficiency with or without craniopharyngeal/facial dysmorphisms. We look to the literature to provide putative explanations for the variable expression of the brothers’ shared SOX3 mutation.

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.

Combined Growth Hormone-Releasing Hormone and Growth Hormone-Releasing Peptide-6 Test for the Evaluation of Growth Hormone Secretion in Children with Growth Hormone Deficiency and Growth Hormone Neurosecretory Dysfunction

2008 ◽  
Vol 70 (4) ◽  
pp. 215-223
Author(s):  
Bessie E. Spiliotis ◽  
Dimitrios T. Papadimitriou ◽  
Theodore K. Alexandrides ◽  
Christoforos Karystianos ◽  
George Nikiforidis ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Deficiency ◽  
Hormone Secretion ◽  
Growth Hormone Secretion ◽  
Hormone Deficiency ◽  
Growth Hormone Releasing Hormone ◽  
Releasing Hormone
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