Endocrine System - Abnormalities
|Embryology - 29 May 2015 Translate|
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- 1 Introduction
- 2 Some Recent Findings
- 3 Pineal
- 4 Pituitary
- 5 Thyroid
- 6 Parathyroid
- 7 Pancreas
- 8 Adrenal
- 9 Endocrine Disruptors
- 10 International Classification of Diseases
- 11 References
- 12 Glossary Links
The endocrine system has an ongoing important role in embryonic, fetal and postnatal development as well as maintainance of homeostasis and reproductive function. There exists a complex interaction between the maternal and fetal endocrine system during development and failure for fetal endocrine development has a cascading effect on many other developing systems. There are additional pages covering abnormalities of specific endocrine organs.
The endocrine system resides within specific endocrine organs and both organs and tissues with other specific functions. Epithelia (ectoderm and endoderm) form the majority of the “ductless” endocrine glands like gastrointestinal and skin associated “ducted” glands. Differentiation of several also organs involves a epithelial/mesenchye interaction, seen in repeated in many differentiation of many different tissues. The endocrine glands produce hormones, which are distributed by the vascular system to the many body tissues, subsequently these organs are richly vascularized.
Hormones are recognised by either cell surface receptors (modified amino acids, peptides, proteins) or cytoplasmic/nuclear receptors (steroids). Hormones “orchestrate” responses in other tissues, including other endocrine organs, and these overall effects can be similar or different in different tissues. In addition, these hormone effects (like music) can be rapid, slow, brief, diurnal, or long-term. Hormone effects can be mimicked, stimulated, and blocked by therapeutic drugs, nutritional and environmental chemicals.
The human fetus is dependent upon endocrine development for hormones, which support normal development. Peripheral endocrine glands (thyroid, pancreas, adrenals, gonads) form early in the second month from epithelial/mesenchye interactions and differentiate into the third month. The fetus also has a unique hormonal system that combines not only its own developing endocrine system, but also that of the placenta and maternal hormones.
Abnormal endocrine development/function can impact on many different systems. For example, insufficient maternal dietary iodine impacts on fetal thyroid gland thyroid hormone production, which in turn can lead to abnormal neural development. Alternatively, we now know many environmental and therapeutic chemicals have a wide range of effects on the endocrine system.
Sex hormones from the gonads also have significant effects prenatally and postnatally, specifically at puberty with a role to play in male/female biological maturity and have wide actions throughout the body. Finally, each endocrine organ page listed below has additional abnormalities information specific to that organ.
- Endocrine Links: Introduction | BGD Lecture | Science Lecture | Pineal | Hypothalamus | Pituitary | Thyroid | Parathyroid | Thymus | Pancreas | Adrenal | Gonad | Placenta | Other Tissues | Stage 22 | Abnormalities | Hormones | Category:Endocrine
Some Recent Findings
|More recent papers|
References listed on the rest of the content page and the associated discussion page (listed under the publication year sub-headings) do include some editorial selection based upon both relevance and availability.
Rieko Takatani, Masanori Minagawa, Angelo Molinaro, Monica Reyes, Kaori Kinoshita, Tomozumi Takatani, Itsuro Kazukawa, Misako Nagatsuma, Kenichi Kashimada, Kenichi Sato, Kazuyuki Matsushita, Fumio Nomura, Naoki Shimojo, Harald Jüppner Similar frequency of paternal uniparental disomy involving chromosome 20q (patUPD20q) in Japanese and Caucasian patients affected by sporadic pseudohypoparathyroidism type Ib (sporPHP1B). Bone: 2015; PMID: 25997889 Wen-Jing Li, Chun-Xiu Gong, Mei-Jie Guo, Jie Xing, Tang Li, Wen-Hui Song, Xiao-Ping Luo, Di Wu, Jian-Ping Liang, Bing-Yan Cao, Yi Gu, Chang Su, Xue-Jun Liang, Min Liu, Rui Wang, Feng-Ting Li Efficacy and Safety of Domestic Leuprorelin in Girls with Idiopathic Central Precocious Puberty: A Multicenter, Randomized, Parallel, Controlled Trial. Chin. Med. J.: 2015, 128(10);1314-1320 PMID: 25963350 Jakob Biran, Maayan Tahor, Einav Wircer, Gil Levkowitz Role of developmental factors in hypothalamic function. Front Neuroanat: 2015, 9;47 PMID: 25954163 Igor Pravdivyi, Klaus Ballanyi, William F Colmers, Rachel Wevrick Progressive postnatal decline in leptin sensitivity of arcuate hypothalamic neurons in the Magel2-null mouse model of Prader-Willi Syndrome. Hum. Mol. Genet.: 2015; PMID: 25926624 Ja Hye Kim, Yoo-Mi Kim, Mi-Sun Yum, Jin-Ho Choi, Beom Hee Lee, Gu-Hwan Kim, Han-Wook Yoo Clinical and Endocrine Features of Two Allan-Herndon-Dudley Syndrome Patients with Monocarboxylate Transporter 8 Mutations. Horm Res Paediatr: 2015; PMID: 25896225
- Hypoplasia - associated with retinal disease.
- Tumours - in children are associated with abnormal puberty development.
- craniopharyngeal canal - Rathke's pouch abnormality, from the anterior part of the fossa hypophyseos of the sphenoid bone to the under surface of the skull.
- pituitary tumours (adenomas) - several abnormalities associated with abnormal levels of the hormonal output of the pituitary.
- Growth hormone (GH) adenomas - benign pituitary tumors lead to chronic high GH output levels, that may lead to acromegaly.
- Cushing's disease - caused either by a pituitary adenoma produces excess adrenocorticotropic hormone (ACTH, corticotropin) or due to ectopic tumors secreting ACTH or corticotropin-releasing hormone (CRH).
- Pyramidal lobe - from isthmus (50% of people) attached to hyoid bone distal end of thryoglossal duct.
- Congenital hypothyroidism - approximately 1 in 3000 births, associated with neurological abnormalities.
- Lingual thyroid gland - failure of thyroid descent.
- Thyroglossal cyst - persistance of thyroglossal duct. Image - thyroglossal duct
- Thyroglossal fistula - partial degeneration of the thyroglossal duct.
- Abnormal development of the thyroid - incomplete or excessive descent.
- Childhood hypothyroidism delays ossification and bone mineralization.
- A teaspoon of iodine, total lifetime requirement, cannot be stored for long periods by our body, tiny amounts are needed regularly
- Areas of endemic iodine deficiency, where soil and therefore crops and grazing animals do not provide sufficient dietary iodine to the populace
- food fortification and supplementation - Iodized salt programs and iodized oil supplements are the most common tools in fight against IDD
- Usually four glands are present (2 on each side), but three to six glands have been found in human.
- Lower parathyroid glands arise from the third pharyngeal pouch and descend with the thymus. Variable descent can lead to a range of adult locations, from just beneath the mandible to the anterior mediastinum.
- Type 1 Diabetes - juvenile onset diabetes, more severe form of illness, increases risk of blindness, heart disease, kidney failure, neurological disease, T-lymphocyte-dependent autoimmune disease, infiltration and destruction of the islets of Langerhans, Approx 16 million Americans
- Type 2 Diabetes - loosely defined as "adult onset" diabetes, becoming more common cases of type 2 diabetes seen in younger people
- Risk of developing diabetes - environmental factors (food intake and exercise play an important role, either overweight or obese), Inherited factors (genes involved remain poorly defined)
- Congenital Adrenal Hyperplasia (CAH) - family of inherited disorders of adrenal steroidogenesis enzymes which impairs cortisol production by the adrenal cortex. Androgen excess leads newborn females with external genital ambiguity and postnatal progressive virilization in both sexes.
- Enzymes most commonly affected: 21-hydroxylase (21-OH), 11beta-hydroxylase, 3beta-hydroxysteroid dehydrogenase.
- Enzymes less commonly affected: 17alpha-hydroxylase/17,20-lyase and cholesterol desmolase.
- Pheochromocytomas (PCC) - Catecholamine-producing (neuro)endocrine tumor located in the adrenal medulla. Similar catecholamine-producing tumors outside the adrenal gland are called paragangliomas (PGL).
Exogenous chemicals that interfere with the function of hormones. There are 3 main mechanisms: mimic, block or interfere.
Replicate the effects of natural hormones by binding receptors.
Inhibit the binding of a hormone to receptor or hormone synthesis.
Compromise with the hormone transport or elimination.
Polychlorinated biphenyl pollutants - (PCBs) Rats exposed to PCBs have low levels of thyroid hormone. Compete for binding sites of thyroid hormone transport protein. Without being bound to this protein, thyroid hormones are excreted from the body (McKinney et al. 1985; Morse et al. 1996)
International Classification of Diseases
Transitory endocrine and metabolic disorders specific to fetus and newborn (P70-P74)
Incl.: transitory endocrine and metabolic disturbances caused by the infant's response to maternal endocrine and metabolic factors, or its adjustment to extrauterine existence
P70 Transitory disorders of carbohydrate metabolism specific to fetus and newborn
- P70.0 Syndrome of infant of mother with gestational diabetes Fetus or newborn (with hypoglycaemia) affected by maternal gestational diabetes
- P70.1 Syndrome of infant of a diabetic mother Fetus or newborn (with hypoglycemia) affected by maternal diabetes mellitus (pre-existing)
- P70.2 Neonatal diabetes mellitus
- P70.3 Iatrogenic neonatal hypoglycaemia
- P70.4 Other neonatal hypoglycaemia Transitory neonatal hypoglycaemia
- P70.8 Other transitory disorders of carbohydrate metabolism of fetus and newborn
- P70.9 Transitory disorder of carbohydrate metabolism of fetus and newborn, unspecified
P71 Transitory neonatal disorders of calcium and magnesium metabolism
- P71.0 Cow's milk hypocalcaemia in newborn
- P71.1 Other neonatal hypocalcaemia Excl.: neonatal hypoparathyroidism (P71.4)
- P71.2 Neonatal hypomagnesaemia
- P71.3 Neonatal tetany without calcium or magnesium deficiency Neonatal tetany NOS
- P71.4 Transitory neonatal hypoparathyroidism
- P71.8 Other transitory neonatal disorders of calcium and magnesium metabolism
- P71.9 Transitory neonatal disorder of calcium and magnesium metabolism, unspecified
P72 Other transitory neonatal endocrine disorders Excl.: congenital hypothyroidism with or without goitre (E03.0-E03.1) dyshormogenetic goitre (E07.1) Pendred's syndrome (E07.1)
- P72.0 Neonatal goitre, not elsewhere classified Transitory congenital goitre with normal function
- P72.1 Transitory neonatal hyperthyroidism Neonatal thyrotoxicosis
- P72.2 Other transitory neonatal disorders of thyroid function, not elsewhere classified Transitory neonatal hypothyroidism
- P72.8 Other specified transitory neonatal endocrine disorders
- P72.9 Transitory neonatal endocrine disorder, unspecified
P74 Other transitory neonatal electrolyte and metabolic disturbances
- P74.0 Late metabolic acidosis of newborn
- P74.1 Dehydration of newborn
- P74.2 Disturbances of sodium balance of newborn
- P74.3 Disturbances of potassium balance of newborn
- P74.4 Other transitory electrolyte disturbances of newborn
- P74.5 Transitory tyrosinaemia of newborn
- P74.8 Other transitory metabolic disturbances of newborn
- P74.9 Transitory metabolic disturbance of newborn, unspecified
- Craig V Towers, Paul D Terry, David Lewis, Bobby Howard, Wesley Chambers, Casey Armistead, Beth Weitz, Stephanie Porter, Christopher J Borman, Rebekah C M Kennedy, Jiangang Chen Transplacental passage of antimicrobial paraben preservatives. J Expo Sci Environ Epidemiol: 2015; PMID: 25944699
- Elisabeth Berger, Theodoros Potouridis, Astrid Haeger, Wilhelm Püttmann, Martin Wagner Effect-directed identification of endocrine disruptors in plastic baby teethers. J Appl Toxicol: 2015; PMID: 25988240
- G Marcucci, L Cianferotti, P Beck-Peccoz, M Capezzone, F Cetani, A Colao, M V Davì, E Degli Uberti, S Del Prato, R Elisei, A Faggiano, D Ferone, C Foresta, L Fugazzola, E Ghigo, G Giacchetti, F Giorgino, A Lenzi, P Malandrino, M Mannelli, C Marcocci, L Masi, F Pacini, G Opocher, A Radicioni, M Tonacchera, R Vigneri, M C Zatelli, M L Brandi Rare diseases in clinical endocrinology: a taxonomic classification system. J. Endocrinol. Invest.: 2014; PMID: 25376364
- NIH Genes & Disease Chapter 41 - Glands and Hormones
- Endocrinology: An Integrated Approach Nussey, S.S. and Whitehead, S.A. London:Taylor & Francis; c2001 Major hormone types
- Genes and Disease, Bethesda (MD): National Library of Medicine (US), NCBI Chapter 41 - Glands and Hormones
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Cite this page: Hill, M.A. (2015) Embryology Endocrine System - Abnormalities. Retrieved May 29, 2015, from https://embryology.med.unsw.edu.au/embryology/index.php/Endocrine_System_-_Abnormalities
- © Dr Mark Hill 2015, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G