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Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Adiposogenital dystrophy differential diagnosis
Introduction
Overview
Overview
Adiposogenital dystrophy must be differentiated from other diseases that cause polyphagia, obesity, and a delayed puberty such as Prader-Willi syndrome, Bardet-Biedl syndrome, Klinefelter’s syndrome and Borjeson syndrome.
Differentiating Adiposogenital Dystrophy from Other Diseases
Differentiating Adiposogenital Dystrophy from Other Diseases
| Disease/Condition | Clinical presentation | Demographics/History | Diagnosis | Treatment |
|---|---|---|---|---|
| Adiposogenital Dystrophy |
Partial destruction of hypothalamic nuclei resulting in hormonal dysfunction with obesity, growth retardation, and hypogonadism. Deep brain stimulation may also cause symptoms similar to adiposogenital syndrome [1] [2]. |
Prevalence is unknown, but it is more common in males [3] [4] |
Diagnosis is based on visual field tests, hormonal assays, CT, MRI, autoimmune assays |
|
| Prader-Willi Syndrome |
It presents with hyperphagia, hypogonadism, truncal obesity, intellectual disability, growth delay, hypotonia, almond-shaped palpebral fissures, narrow frontal diameter, thin upper vermilion with downturned corners of the mouth behavioral problems such as anxiety and temper outbursts [6] |
Prader Willi Syndrome has a prevalence of 1 in every 1 in 20000 to 1 in 30000 births[7]. Females and males can be equally affected, and there is no difference between races and ethnicities[8]. Most cases of Prader Willi syndrome are sporadic, but familial cases can present when the paternal genes carry a microdeletion in the imprinting center inherited from his mother[9]. |
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| Bardet-Biedl Syndrome |
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| Klinefelter Syndrome |
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| Börjeson-Forssman-Lehmann syndrome |
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References
References
- ↑ Tuite PJ, Maxwell RE, Ikramuddin S, Kotz CM, Kotzd CM, Billington CJ; et al. (2005). “Weight and body mass index in Parkinson’s disease patients after deep brain stimulation surgery”. Parkinsonism Relat Disord. 11 (4): 247–52. doi:10.1016/j.parkreldis.2005.01.006. PMID 15878586.
- ↑ Romito LM, Scerrati M, Contarino MF, Iacoangeli M, Bentivoglio AR, Albanese A (2003) Bilateral high frequency subthalamic stimulation in Parkinson’s disease: long-term neurological follow-up. J Neurosurg Sci 47:119–128 Medline
- ↑ Babinski-fröhlich syndrome. Bissonnette B, & Luginbuehl I, & Marciniak B, & Dalens B.J.(Eds.), (2006). Syndromes: Rapid Recognition and Perioperative Implications. McGraw Hill. https://accessanesthesiology.mhmedical.com/content.aspx?bookid=852§ionid=49517244
- ↑ Burfeind KG, Yadav V, Marks DL. Hypothalamic Dysfunction and Multiple Sclerosis: Implications for Fatigue and Weight Dysregulation. Curr Neurol Neurosci Rep. 2016 Nov;16(11):98.
- ↑ Sanchez Jimenez JG, De Jesus O. Hypothalamic Dysfunction. [Updated 2021 Aug 30]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2021 Jan-
- ↑ Fermin Gutierrez MA, Mendez MD. Prader-Willi Syndrome. [Updated 2021 Aug 11]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2021 Jan-.
- ↑ Pacoricona Alfaro DL, Lemoine P, Ehlinger V, Molinas C, Diene G, Valette M; et al. (2019). “Causes of death in Prader-Willi syndrome: lessons from 11 years’ experience of a national reference center”. Orphanet J Rare Dis. 14 (1): 238. doi:10.1186/s13023-019-1214-2. PMC 6829836 Check
|pmc=value (help). PMID 31684997. - ↑ Bohonowych J, Miller J, McCandless SE, Strong TV (2019). “The Global Prader-Willi Syndrome Registry: Development, Launch, and Early Demographics”. Genes (Basel). 10 (9). doi:10.3390/genes10090713. PMC 6770999 Check
|pmc=value (help). PMID 31540108. - ↑ 9.0 9.1 Butler MG, Manzardo AM, Forster JL (2016). “Prader-Willi Syndrome: Clinical Genetics and Diagnostic Aspects with Treatment Approaches”. Curr Pediatr Rev. 12 (2): 136–66. doi:10.2174/1573396312666151123115250. PMC 6742515 Check
|pmc=value (help). PMID 26592417. - ↑ Cassidy SB, Schwartz S, Miller JL, Driscoll DJ (2012) Prader-Willi syndrome. Genet Med 14 (1):10-26. DOI:10.1038/gim.0b013e31822bead0 PMID: 22237428
- ↑ Passone CBG, Pasqualucci PL, Franco RR, Ito SS, Mattar LBF, Koiffmann CP; et al. (2018). “PRADER-WILLI SYNDROME: WHAT IS THE GENERAL PEDIATRICIAN SUPPOSED TO DO? – A REVIEW”. Rev Paul Pediatr. 36 (3): 345–352. doi:10.1590/1984-0462/;2018;36;3;00003. PMC 6202899. PMID 30365815.
- ↑ Suspitsin EN, Imyanitov EN (2016). “Bardet-Biedl Syndrome”. Mol Syndromol. 7 (2): 62–71. doi:10.1159/000445491. PMC 4906432. PMID 27385962.
- ↑ Bardet-biedl syndrome. Bissonnette B, & Luginbuehl I, & Marciniak B, & Dalens B.J.(Eds.), (2006). Syndromes: Rapid Recognition and Perioperative Implications. McGraw Hill. https://accessanesthesiology.mhmedical.com/content.aspx?bookid=852§ionid=49517256
- ↑ Bardet-biedl syndrome. Bissonnette B, & Luginbuehl I, & Marciniak B, & Dalens B.J.(Eds.), (2006). Syndromes: Rapid Recognition and Perioperative Implications. McGraw Hill. https://accessanesthesiology.mhmedical.com/content.aspx?bookid=852§ionid=49517256
- ↑ Bardet-biedl syndrome. Bissonnette B, & Luginbuehl I, & Marciniak B, & Dalens B.J.(Eds.), (2006). Syndromes: Rapid Recognition and Perioperative Implications. McGraw Hill. https://accessanesthesiology.mhmedical.com/content.aspx?bookid=852§ionid=49517256
- ↑ Forsythe E, Kenny J, Bacchelli C, Beales PL (2018). “Managing Bardet-Biedl Syndrome-Now and in the Future”. Front Pediatr. 6: 23. doi:10.3389/fped.2018.00023. PMC 5816783. PMID 29487844.
- ↑ 17.0 17.1 17.2 Smyth CM, Bremner WJ (1998). “Klinefelter syndrome”. Arch Intern Med. 158 (12): 1309–14. doi:10.1001/archinte.158.12.1309. PMID 9645824.
- ↑ Kanakis GA, Nieschlag E (2018). “Klinefelter syndrome: more than hypogonadism”. Metabolism. 86: 135–144. doi:10.1016/j.metabol.2017.09.017. PMID 29382506.
- ↑ Gécz J, Turner G, Nelson J, Partington M (2006). “The Börjeson-Forssman-Lehman syndrome (BFLS, MIM #301900)”. Eur J Hum Genet. 14 (12): 1233–7. doi:10.1038/sj.ejhg.5201639. PMID 16912705.
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Ogechukwu Hannah Nnabude, MD
