scholarly journals Endocrine Conditions in Neurofibromatosis 1

2021 ◽  
Author(s):  
Shilpa Mehta ◽  
Resmy Palliyil Gopi
Keyword(s):  
Growth Hormone ◽  
Nervous System ◽  
Growth Hormone Deficiency ◽  
Short Stature ◽  
Central Precocious Puberty ◽  
Neurofibromatosis 1 ◽  
Hormone Deficiency ◽  
Endocrine Disorders ◽  
Endocrine Tumors ◽  
Diencephalic Syndrome

Neurofibromatosis 1 (NF1) is an autosomal-dominant multisystemic neurocutaneous disorder primarily affecting the skin, bone and the nervous system. It has been long appreciated that NF1 is often associated with endocrine disorders. In this chapter, we will discuss the endocrine disorders associated with NF1. The most common endocrinological disorders in NF1 are short stature with or without growth hormone deficiency, central precocious puberty, growth hormone excess. Less common endocrine-related conditions in NF1 include gynecomastia, diencephalic syndrome and the presence of endocrine tumors like pheochromocytoma.

scholarly journals Should Skeletal Maturation Be Manipulated for Extra Height Gain?

2021 ◽  
Vol 12 ◽  
Author(s):  
Jan M. Wit
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Deficiency ◽  
Short Stature ◽  
Precocious Puberty ◽  
Adult Height ◽  
Central Precocious Puberty ◽  
Idiopathic Short Stature ◽  
Hormone Deficiency ◽  
Skeletal Maturation ◽  
Gnrh Analogue

Skeletal maturation can be delayed by reducing the exposure to estrogens, either by halting pubertal development through administering a GnRH analogue (GnRHa), or by blocking the conversion of androgens to estrogens through an aromatase inhibitor (AI). These agents have been investigated in children with growth disorders (off-label), either alone or in combination with recombinant human growth hormone (rhGH). GnRHa is effective in attaining a normal adult height (AH) in the treatment of children with central precocious puberty, but its effect in short children with normal timing of puberty is equivocal. If rhGH-treated children with growth hormone deficiency or those who were born small-for-gestational age are still short at pubertal onset, co-treatment with a GnRHa for 2-3 years increases AH. A similar effect was seen by adding rhGH to GnRHa treatment of children with central precocious puberty with a poor AH prediction and by adding rhGH plus GnRHa to children with congenital adrenal hyperplasia with a poor predicted adult height on conventional treatment with gluco- and mineralocorticoids. In girls with idiopathic short stature and relatively early puberty, rhGH plus GnRHa increases AH. Administration of letrozole to boys with constitutional delay of growth puberty may increase AH, and rhGH plus anastrozole may increase AH in boys with growth hormone deficiency or idiopathic short stature, but the lack of data on attained AH and potential selective loss-of-follow-up in several studies precludes firm conclusions. GnRHas appear to have a good overall safety profile, while for aromatase inhibitors conflicting data have been reported.

Growth hormone deficiency in a patient with mitochondrial disease

2015 ◽  
Vol 28 (9-10) ◽  
Author(s):  
Vera Rocha ◽  
Dalila Rocha ◽  
Helena Santos ◽  
Jorge Sales Marques
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Deficiency ◽  
Short Stature ◽  
Respiratory Chain ◽  
Muscle Biopsy ◽  
Mitochondrial Respiratory Chain ◽  
Hormone Deficiency ◽  
Endocrine Disorders ◽  
Common Symptom ◽  
Mitochondrial Respiratory

Abstract: Mitochondrial respiratory chain (MRC) disorders, defined as primary diseases of the oxidative phosphorylation system, are a protean group of metabolic disorders, difficult to diagnose and classify. The diagnosis is complex and requires the integration of information obtained by clinical, laboratory testing, imaging and muscle biopsy. They may be associated with endocrine disorders, including hypothyroidism, diabetes mellitus, hyperinsulinemia and growth hormone (GH) deficiency.: We describe a case of five years old male with polymalformative syndrome with a systemic involvement. At 6 months of age, he was sent to metabolic consultation because of facial dysmorphy and short stature. During the investigation it was diagnosed at the boy a growth hormone deficiency and because of his multisystemic involvement, muscle biopsy was carried out and showed reduced activity of complex II (38%) of the mitochondrial respiratory chain. Currently, the boy is under GH therapy with growth in the 5th percentile and coenzime Q10.: Mitochondrial biology is one of the fastest growing areas in genetics and medicine. Disturbances in mitochondrial metabolism are now known to play a role not only in rare childhood diseases, but also in many common diseases of aging. In mitochondrial disorders, short stature is a common symptom, but its underlying lesion, growth hormone deficiency, is rarely investigated.

Circadian variation of plasma cortisol in prepubertal children with normal stature, short stature and growth hormone deficiency

1999 ◽  
Vol 50 (4) ◽  
pp. 473-479 ◽  
Author(s):  
Ramón C. Hermida ◽  
Leopoldo García ◽  
Diana E. Ayala ◽  
José R. Fernández
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Deficiency ◽  
Short Stature ◽  
Plasma Cortisol ◽  
Circadian Variation ◽  
Hormone Deficiency ◽  
Prepubertal Children ◽  
Normal Stature

The Role of Auxologic and Growth Factor Measurements in the Diagnosis of Growth Hormone Deficiency

PEDIATRICS ◽  
1998 ◽  
Vol 102 (Supplement_3) ◽  
pp. 524-526
Author(s):  
Raymond L. Hintz
Keyword(s):  
Growth Hormone ◽  
Growth Factor ◽  
Growth Hormone Deficiency ◽  
Short Stature ◽  
The Body ◽  
Hormone Deficiency ◽  
Insulin Like Growth Factor ◽  
Growth Study ◽  
Short Children ◽  
National Cooperative

The use of auxologic measurements in the diagnosis of short stature in children has a long history in pediatric endocrinology, and they have even been used as the primary criteria in selecting children for growth hormone (GH) therapy. Certainly, an abnormality in the control of growth is more likely in short children than in children of normal stature. However, most studies have shown little or no value of auxologic criteria in differentiating short children who have classic growth hormone deficiency (GHD) from short children who do not. In National Cooperative Growth Study Substudy VI, in more than 6000 children being assessed for short stature, the overall mean height SD score was −2.5 ± 1.1 and the body mass index standard deviation score was −0.5 ± 1.4. However, there were no significant differences in these measures between the patients who were found subsequently to have GHD and those who were not. There also was no consistent difference in the growth rates between the patients with classic GHD and those short children without a diagnosis of GHD. This probably reflects the fact that we are dealing with a selected population of children who were referred for short stature and are further selecting those who are the shortest for additional investigation. Growth factor measurements have been somewhat more useful in selecting patients with GHD and have been proposed as primary diagnostic criteria. However, in National Cooperative Growth Study Substudy VI, only small differences in the levels of insulin-like growth factor I and insulin-like growth factor binding protein 3 were seen between the patients who were selected for GH treatment and those who were not. Many studies indicate that the primary value of growth factor measurements is to exclude patients who are unlikely to have GHD or to identify those patients in whom an expedited work-up should be performed. The diagnosis of GHD remains difficult and must be based on all of the data possible and the best judgment of an experienced clinician. Even under ideal circumstances, errors of both overdiagnosis and underdiagnosis of GHD still are likely.

scholarly journals Short stature and growth hormone deficiency: unexpected manifestations of McCune-Albright syndrome

2018 ◽  
pp. bcr-2018-225709
Author(s):  
Yordanka Pina Rivera ◽  
Godfrey Mutashambara Rwegerera ◽  
Sheikh Sesay
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Deficiency ◽  
Short Stature ◽  
Hormone Deficiency ◽  
Mccune Albright Syndrome ◽  
Albright Syndrome ◽  
Mccune Albright

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.

scholarly journals OTX2 Mutation in a Patient with Anophthalmia, Short Stature, and Partial Growth Hormone Deficiency: Functional Studies Using the IRBP, HESX1, and POU1F1 Promoters

2008 ◽  
Vol 93 (10) ◽  
pp. 3697-3702 ◽  
Author(s):  
Sumito Dateki ◽  
Maki Fukami ◽  
Naoko Sato ◽  
Kouji Muroya ◽  
Masanori Adachi ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Deficiency ◽  
Short Stature ◽  
Hormone Deficiency ◽  
Functional Studies

Diagnosis of Growth Hormone Deficiency and the Treatment of Short Stature

JAMA ◽  
1989 ◽  
Vol 262 (1) ◽  
pp. 30 ◽  
Author(s):  
Deborah Rotenstein
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Deficiency ◽  
Short Stature ◽  
Hormone Deficiency

scholarly journals Severe short stature and Wolf-Hirschhorn syndrome: response to growth hormone in two cases without growth hormone deficiency

2015 ◽  
Vol 2015 (2) ◽  
pp. 211-214 ◽  
Author(s):  
D. E. Austin ◽  
A. J. Gunn ◽  
C. A. Jefferies
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Deficiency ◽  
Short Stature ◽  
Hormone Deficiency ◽  
Severe Short Stature
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