Endocrine System - Abnormalities
|Embryology - 24 Oct 2017 Expand to 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.
Some Recent Findings
|More recent papers|
This table shows an automated computer PubMed search using the listed sub-heading term.
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.
Keisuke Nagasaki, Takuo Kubota, Hironori Kobayashi, Hirotake Sawada, Chikahiko Numakura, Shohei Harada, Kei Takasawa, Kanshi Minamitani, Tomohiro Ishii, Satoshi Okada, Hotaka Kamasaki, Shigetaka Sugihara, Masanori Adachi, Toshihiro Tajima Clinical characteristics of septo-optic dysplasia accompanied by congenital central hypothyroidism in Japan. Clin Pediatr Endocrinol: 2017, 26(4);207-213 PubMed 29026269
Xiaoxiao Qian, Samksha Fouzdar Jain, Linda A Morgan, Travis Kruse, Monina Cabrera, Donny W Suh Neuroimaging and endocrine disorders in paediatric optic nerve hypoplasia. Br J Ophthalmol: 2017; PubMed 28982953
R Nixon, V Cerqueira, A Kyriakou, A Lucas-Herald, J McNeilly, M McMillan, A I Purvis, E S Tobias, R McGowan, S F Ahmed Prevalence of endocrine and genetic abnormalities in boys evaluated systematically for a disorder of sex development. Hum. Reprod.: 2017, 32(10);2130-2137 PubMed 28938747
Andrea R Hindman, Xiaokui Molly Mo, Hannah L Helber, Claire E Kovalchin, Nanditha Ravichandran, Alina R Murphy, Abigail M Fagan, Pamela M St John, Craig J Burd Varying susceptibility of the female mammary gland to in utero windows of BPA exposure. Endocrinology: 2017; PubMed 28938483
Uthra Rajamani, Andrew R Gross, Camille Ocampo, Allen M Andres, Roberta A Gottlieb, Dhruv Sareen Endocrine disruptors induce perturbations in endoplasmic reticulum and mitochondria of human pluripotent stem cell derivatives. Nat Commun: 2017, 8(1);219 PubMed 28794470
Naila Khalil, James R Ebert, Masato Honda, Miryoung Lee, Ramzi W Nahhas, Antti Koskela, Thomas Hangartner, Kurunthachalam Kannan Perfluoroalkyl substances, bone density, and cardio-metabolic risk factors in obese 8-12 year old children: A pilot study. Environ. Res.: 2017, 160;314-321 PubMed 29040951
Na Li, Te Liu, Kun Guo, Jian Zhu, Guangyan Yu, Shuyue Wang, Lin Ye Effect of Mono-(2-Ethylhexyl) Phthalate(MEHP) on Proliferation of and Steroid Hormone Synthesis in Rat Ovarian Granulosa Cells In Vitro. J. Cell. Physiol.: 2017; PubMed 29034469
Mario Rotondi, Martina Molteni, Paola Leporati, Valentina Capelli, Michele Marinò, Luca Chiovato Autoimmune Thyroid Diseases in Patients Treated with Alemtuzumab for Multiple Sclerosis: An Example of Selective Anti-TSH-Receptor Immune Response. Front Endocrinol (Lausanne): 2017, 8;254 PubMed 29033895
Cassie J Gould, Jenna L Wiegand, Victoria P Connaughton Acute developmental exposure to 4-hydroxyandrostenedione has a long-term effect on visually-guided behaviors. Neurotoxicol Teratol: 2017; PubMed 29031477
- 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.
| (DES or diethylstilbetrol) a drug prescribed to women from 1938-1971 to prevent miscarriage in high-risk pregnancies. Acts as a potent estrogen (mimics natural hormone) and therefore a potential endocrine disruptor.
Female fetus, increased risk abnormal reproductive tract and cancer. Male fetus, abnormal genitalia. Banned by USA FDA in 1979 as a teratogen, previously used as livestock growth promoter.
DES induces vaginal abnormalities (vaginal adenosis) by inhibiting the BMP4/Activin A-regulated vaginal cell fate decision through a downregulation of RUNX1. 
Inhibit the binding of a hormone to receptor or hormone synthesis.
|Chemical used to prevent male pattern baldness and enlargement of prostate glands. An anti-androgen (blocks synthesis of dihydrotestosterone) and therefore a potential endocrine disruptor, exposed pregnant women can impact on male fetus genetial development.||Dicarboximide fungicide, perinatal exposure in rats inhibits morphological sex differentiation. In adult rats, shown to cause gonad tumours (Leydig cell) and atrophy. Chemical has androgen-antagonist (antiandrogenic) activity, metabolies compete with natural androgen|
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; PubMed 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; PubMed 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; PubMed 25376364
- Monica M Laronda, Kenji Unno, Kazutomo Ishi, Vanida A Serna, Lindsey M Butler, Alea A Mills, Grant D Orvis, Richard R Behringer, Chuxia Deng, Satrajit Sinha, Takeshi Kurita Diethylstilbestrol induces vaginal adenosis by disrupting SMAD/RUNX1-mediated cell fate decision in the Müllerian duct epithelium. Dev. Biol.: 2013, 381(1);5-16 PubMed 23830984
- 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
- Bookshelf endocrine | pineal gland | hypothalamus | pituitary gland | thyroid gland | parathyroid gland | thymus gland | endocrine pancreas | adrenal gland
- Pubmed abnormal endocrine development
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Cite this page: Hill, M.A. 2017 Embryology Endocrine System - Abnormalities. Retrieved October 24, 2017, from https://embryology.med.unsw.edu.au/embryology/index.php/Endocrine_System_-_Abnormalities
- © Dr Mark Hill 2017, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G