scholarly journals Endocrine Dysfunction in Prader-Willi Syndrome: A Review with Special Reference to GH

2001 ◽  
Vol 22 (6) ◽  
pp. 787-799 ◽  
Author(s):  
Pia Burman ◽  
E. Martin Ritzén ◽  
Ann Christin Lindgren
Keyword(s):  
Replacement Therapy ◽  
Lean Body Mass ◽  
Body Mass ◽  
Genetic Disorder ◽  
Hormone Replacement ◽  
Hypogonadotropic Hypogonadism ◽  
Endocrine Disorders ◽  
Prader Willi Syndrome ◽  
Gh Treatment ◽  
Pituitary Dysfunction

Abstract Prader-Willi syndrome is a genetic disorder occurring in 1 in 10,000–16,000 live-born infants. In the general population, approximately 60 people in every 1,000,000 are affected. The condition is characterized by short stature, low lean body mass, muscular hypotonia, mental retardation, behavioral abnormalities, dysmorphic features, and excessive appetite with progressive obesity. Furthermore, morbidity and mortality are high, probably as a result of gross obesity. Most patients have reduced GH secretory capacity and hypogonadotropic hypogonadism, suggesting hypothalamic-pituitary dysfunction. Replacement of GH and/or sex hormones may therefore be beneficial in Prader-Willi syndrome, and several clinical trials have now evaluated GH replacement therapy in affected children. Results of GH treatment have been encouraging: improved growth, increased lean body mass, and reduced fat mass. There was also some evidence of improvements in respiratory function and physical activity. The long-term benefits of GH treatment are, however, still to be established. Similarly, the role of sex hormone replacement therapy needs to be clarified as few data exist on its efficacy and potential benefits. In summary, Prader-Willi syndrome is a disabling condition associated with GH deficiency and hypogonadism. More active treatment of these endocrine disorders is likely to benefit affected individuals.

scholarly journals A boy with Prader-Willi syndrome: unmasking precocious puberty during growth hormone replacement therapy

2016 ◽  
Vol 60 (6) ◽  
pp. 596-600 ◽  
Author(s):  
Natasha G. Ludwig ◽  
Rafael F. Radaeli ◽  
Mariana M. X. Silva ◽  
Camila M. Romero ◽  
Alexandre J. F. Carrilho ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Hormone Replacement Therapy ◽  
Replacement Therapy ◽  
Precocious Puberty ◽  
Hormone Replacement ◽  
Prader Willi Syndrome ◽  
Growth Hormone Replacement ◽  
Growth Hormone Replacement Therapy

Maximal and submaximal aerobic fitness in postmenopausal women: influence of hormone-replacement therapy

2008 ◽  
Vol 33 (5) ◽  
pp. 922-928 ◽  
Author(s):  
Liza Stathokostas ◽  
John M. Kowalchuk ◽  
Robert J. Petrella ◽  
Donald H. Paterson
Keyword(s):  
Oxygen Consumption ◽  
Hormone Replacement Therapy ◽  
Replacement Therapy ◽  
Postmenopausal Women ◽  
Body Mass ◽  
Aerobic Fitness ◽  
Ventilatory Threshold ◽  
Hormone Replacement ◽  
Peak Oxygen Consumption ◽  
Fitness Parameters

The purpose of this study was to examine whether maximal and submaximal aerobic fitness parameters (peak oxygen consumption and ventilatory threshold, respectively) are affected by hormone-replacement therapy (HRT) in moderately active postmenopausal women. Forty healthy, active, postmenopausal women (21 taking HRT, mean age 62 ± 5 years; 19 not taking HRT, mean age 62 ± 7 years) met the peak oxygen consumption criteria during a cycle ergometer test (15 W ramp) and achieved volitional fatigue. Breath-by-breath measurement was used to determine peak oxygen consumption and to estimate ventilatory threshold. There were no differences in characteristics (age, body mass, height, body mass index, leisure-time physical activity) between the non-HRT and HRT groups, nor were there any differences in responses to maximal exercise, with an observed peak oxygen consumption (mL·kg–1·min–1) of 22.9 ± 3.8 in the non-HRT group and 22.0 ± 4.7 in the HRT group. There was also no difference in submaximal aerobic capacity, with ventilatory threshold values (mL·kg–1·min–1) of 16.7 ± 3.4 in the non-HRT group and 15.6 ± 3.2 in the HRT group. In a sample of healthy moderately active postmenopausal women, there was no difference in maximal or submaximal aerobic fitness parameters beteen the HRT and non-HRT groups.

Thyroid function in patients with Prader-Willi syndrome: an Italian multicenter study of 339 patients

2019 ◽  
Vol 32 (2) ◽  
pp. 159-165 ◽  
Author(s):  
Lorenzo Iughetti ◽  
Giulia Vivi ◽  
Antonio Balsamo ◽  
Andrea Corrias ◽  
Antonino Crinò ◽  
...  
Keyword(s):  
Thyroid Function ◽  
Thyroid Dysfunction ◽  
Genetic Disorder ◽  
Hypogonadotropic Hypogonadism ◽  
Thyroid Stimulating Hormone ◽  
Hormone Deficiency ◽  
Published Data ◽  
Prader Willi Syndrome ◽  
Thyroid Function Tests ◽  
Central Hypothyroidism

AbstractBackgroundPrader-Willi syndrome (PWS) is a genetic disorder due to loss of expression of paternally transcribed genes of the imprinted region of chromosome 15q11-13. PWS is characterized by peculiar signs and symptoms and many endocrine abnormalities have been described (growth hormone deficiency, hypogonadotropic hypogonadism). The abnormalities of thyroid function are discussed in literature and published data are discordant. The aim of our study was to report the thyroid function in patients with PWS to identify the prevalence of thyroid dysfunction.MethodsThyroid function tests were carried out in 339 patients with PWS, aged from 0.2 to 50 years. A database was created to collect personal data, anthropometric data, thyroid function data and possible replacement therapy with L-thyroxine. Subjects were classified according to thyroid function as: euthyroidism (EuT), congenital hypothyroidism (C-HT), hypothyroidism (HT – high thyroid-stimulating hormone [TSH] and low free thyroxine [fT4]), central hypothyroidism (CE-H – low/normal TSH and low fT4), subclinical hypothyroidism (SH – high TSH and normal fT4), and hyperthyroidism (HyperT – low TSH and high fT4).ResultsTwo hundred and forty-three out of 339 PWS patients were younger than 18 years (71.7%). The prevalence of thyroid dysfunction was 13.6%. Specifically, C-HT was found in four children (1.18%), HT in six patients (1.77%), CE-H in 23 patients (6.78%), SH in 13 patients (3.83%), and HyperT in none. All other subjects were in EuT (86.4%).ConclusionsHypothyroidism is a frequent feature in subjects with PWS. Thyroid function should be regularly investigated in all PWS patients both at the diagnosis and annually during follow-up.

scholarly journals The Effects of Growth Hormone Treatment on Bone Mineral Density and Body Composition in Girls with Turner Syndrome

2006 ◽  
Vol 91 (11) ◽  
pp. 4302-4305 ◽  
Author(s):  
Mim Ari ◽  
Vladimir K. Bakalov ◽  
Suvimol Hill ◽  
Carolyn A. Bondy
Keyword(s):  
Bone Mineral Density ◽  
Body Composition ◽  
Turner Syndrome ◽  
Lean Body Mass ◽  
Body Mass ◽  
Bone Mineral ◽  
Bone Age ◽  
Treated Group ◽  
Mineral Density ◽  
Gh Treatment

Abstract Background: Many girls with Turner syndrome (TS) are treated with GH to increase adult height. In addition to promoting longitudinal bone growth, GH has effects on bone and body composition. Objective: The objective was to determine how GH treatment affects bone mineral density (BMD) and body composition in girls with TS. Method: In a cross-sectional study, we compared measures of body composition and BMD by dual energy x-ray absorptiometry, and phalangeal cortical thickness by hand radiography in 28 girls with TS who had never received GH and 39 girls who were treated with GH for at least 1 yr. All girls were participants in a National Institutes of Health (NIH) Clinical Research Center (CRC) protocol between 2001 and 2006. Results: The two groups were similar in age (12.3 yr, sd 2.9), bone age (11.5 yr, sd 2.6), and weight (42.8 kg, sd 16.6); but the GH-treated group was taller (134 vs. 137 cm, P = 0.001). The average duration of GH treatment was 4.2 (sd 3.2) yr (range 1–14 yr). After adjustment for size and bone age, there were no significant differences in BMD at L1–L4, 1/3 radius or cortical bone thickness measured at the second metacarpal. However, lean body mass percent was higher (P < 0.001), whereas body fat percent was lower (P < 0.001) in the GH-treated group. These effects were independent of estrogen exposure and were still apparent in girls that had finished GH treatment at least 1 yr previously. Conclusions: Although GH treatment has little effect on cortical or trabecular BMD in girls with TS, it is associated with increased lean body mass and reduced adiposity.

scholarly journals Inducing puberty

2008 ◽  
Vol 159 (suppl_1) ◽  
pp. S9-S15 ◽  
Author(s):  
Eveline M Delemarre ◽  
Bram Felius ◽  
Henriette A Delemarre-van de Waal
Keyword(s):  
Sex Steroids ◽  
Developmental Disorders ◽  
Genetic Disorder ◽  
Hypogonadotropic Hypogonadism ◽  
Gonadal Development ◽  
Delayed Puberty ◽  
Sex Characteristics ◽  
Cerebral Tumor ◽  
Pituitary Dysfunction ◽  
Secondary Sex Characteristics

Puberty is the result of increasing pulsatile secretion of the hypothalamic gonadotropin releasing hormone (GnRH), which stimulates the release of gonadotropins and in turn gonadal activity.In general in females, development of secondary sex characteristics due to the activity of the gonadal axis, i.e., the growth of breasts, is the result of exposure to estrogens, while in boys testicular growth is dependent on gonadotropins and virilization on androgens.Hypogonadotropic hypogonadism is a rare disease. More common is the clinical picture of delayed puberty, often associated with a delay of growth and more often familial occurring. Especially, boys are referred because of the delay of growth and puberty. A short course (3–6 months) of androgens may help these boys to overcome the psychosocial repercussions, and during this period an increase in the velocity of height growth and some virilization will occur.Hypogonadotropic hypogonadism may present in a congenital form caused by developmental disorders, some of which are related to a genetic disorder, or secondary to hypothalamic–pituitary dysfunction due to, among others, a cerebral tumor.In hypogonadotropic hypogonadism puberty can be initiated by the use of pulsatile GnRH, gonadotropins, and sex steroids. Sex steroids will induce development of the secondary sex characteristics alone, while combined administration of gonadotropins and GnRH may induce gonadal development including fertility.

scholarly journals Serum IGF-I Is Not a Reliable Pharmacodynamic Marker of Exogenous Growth Hormone Activity in Mice

Endocrinology ◽  
2011 ◽  
Vol 152 (12) ◽  
pp. 4764-4776 ◽  
Author(s):  
Maximilian Bielohuby ◽  
Michael Schaab ◽  
Moritz Kummann ◽  
Mandy Sawitzky ◽  
Rolf Gebhardt ◽  
...  
Keyword(s):  
Body Weight ◽  
Lean Body Mass ◽  
Body Mass ◽  
Genetic Background ◽  
Liver Weight ◽  
Laboratory Mice ◽  
Gh Treatment ◽  
Pharmacodynamic Marker ◽  
Igf I ◽  
Rhgh Treatment

Serum IGF-I is a well-established pharmacodynamic marker of GH administration in humans and has been used for this purpose in animal studies. However, its general suitability in wild-type laboratory mice has not been demonstrated. Here we show that treatment with recombinant human GH (rhGH) in four different strains of laboratory mice increases body weight, lean body mass, and liver weight but does not increase hepatic expression and release of IGF-I. In contrast and as expected, hypophysectomized rats show a rapid increase in serum IGF-I after rhGH administration. The lack of IGF-I up-regulation in mice occurs despite hepatic activation of the Janus kinase/signal transducer and activator of transcription (JAK/STAT) pathway and is not explained by GH dose, route of administration, origin of GH (i.e. recombinant human, bovine, and murine GH), treatment duration, genetic background, sex, or formation of neutralizing antibodies. Effects on other components of the GH/IGF pathway were highly influenced by genetic background and sex but not consistently affected by rhGH treatment. We conclude that IGF-I is not a reliable indicator of the biological effects of exogenous GH treatment in genetically and pharmacologically unmodified mice. We speculate that IGF-I release is already maximal in these animals and cannot be further increased by exogenous GH treatment. This is also suggested by the observation of restored IGF-I up-regulation in isolated murine hepatocytes after rhGH treatment. Total body weight, lean body mass, and liver weight may be more reliable phenotypic indicators in these models.

scholarly journals Clinicohormonal Parameters as a Primary Step to Differentiate Normosmic Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome in a Tertiary Care Hospital in Eastern India

2021 ◽  
Author(s):  
Ram Chandra Bhadra ◽  
Dona Saha ◽  
Arjun Baidya
Keyword(s):  
Genetic Disorder ◽  
Hormone Replacement ◽  
Hypogonadotropic Hypogonadism ◽  
Tertiary Care ◽  
Serum Testosterone ◽  
Kallmann Syndrome ◽  
Care Hospital ◽  
Cross Sectional ◽  
Idiopathic Hypogonadotropic Hypogonadism ◽  
Male Predominance

Introduction: Idiopathic hypogonadotropic hypogonadism is a rare gonadal dysgenesis in which puberty does not take place naturally. It occurs due to insufficient pulsatile secretion of Gonadotrophin-Releasing Hormone (GnRH) and the resulting Follicle-Stimulating Hormone (FSH) and Luteinising Hormone (LH) deficiency leads to absence of or delayed sexual maturation. Kallmann syndrome is an uncommon genetic disorder characterised by hypogonadotropic hypogonadism associated with anosmia or hyposmia. When anosmia is absent, the same is referred as normosmic Idiopathic Hypogonadotropic hypogonadism (nIHH). Aim: To find out the significant differences between Kallmann syndrome and nIHH based on clinical features and biochemical assessment as a primary measure to initiate the treatment early. Materials and Methods: This hospital based cross-sectional observational cohort study was conducted in Department of Endocrinology, Nilratan Sircar Medical College and Hospital, Kolkata, India. The study was done on 55 cases of IHH presenting to the department with delayed secondary sexual characteristics. Results: Out of these 55 cases, 45 (81.8%) were of nIHH and only 10 (18.2%) cases were of Kallmann Syndrome. It was found that both the conditions show male predominance. Smell abnormalities were present only in Kallmann group. The level of serum testosterone was significantly higher (p<0.05) in nIHH subjects (mean-35.59 ng/dL) than patients with Kallmann Syndrome (mean-14.90 ng/dL). Patients with Kallmann syndrome showed significantly reduced pubic and axillary hair development and absence of gonadal development. Conclusion: Absence of puberty with anosmia/hyposmia with low serum FSH and LH, drastically reduced serum testosterone, are factors that point towards the diagnosis of Kallmann syndrome even in absence of genetic study, which is helpful for initiation of hormone replacement therapy for treatment.

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