Premium Essay

Congenital Adrenal Hyperplasias (CAH)

Submitted By
Words 629
Pages 3
Congenital adrenal hyperplasias (CAH) are autosomal recessive disorders characterized by impaired synthesis of cortisol and accumulation of cortisol precursor. Biosynthesis of this glucocorticoid occurs in the zone fasciculata of the adrenal cortex under the influence of adrenocorticotropin hormone (ACTH), and requires five functional enzymes in order to convert cholesterol to its final product. Cortisol levels below threshold, result in an blockage of feedback inhibition of ACTH secretion, causing an increase in ACTH and enlargement of the adrenal cortex. Treatment is primarily focused on reducing long term consequences of glucocorticoid deficiency, and normalize synthesis of aldosterone and androgens.

CAH is caused by an inherited defect …show more content…
Female patients with classical 21-hydroxylase deficiency have masculinized external genitalia due to excess exposure to androgen secretion prenatally. In contrast, in the non-classical form of 21-OHD deficiency, enzyme activity is partially maintained, causing impaired synthesis of both cortisol and testosterone. Defects in testosterone production cause absence or incomplete masculinization of male …show more content…
Major focus of therapy for patients with 21-OHD are prevention of enlargement and abnormal tissue growth in the adrenal glands and gonads; prevent side effects as result of long-term administration of adrenal replacement therapies; and restoration of fertility. A balanced management of the disease is essential for favorable outcomes ; while under- treatment leads to overproduction of adrenal androgens and growth retardation, over-treatment may result in elevated blood pressure and Cushing’s

Similar Documents

Free Essay

Congenital Hyperplasia

...Congenital Adrenal Hyperplasia Definition Congenital adrenal hyperplasia (CAH) is a genetic disorder of the adrenal glands which involves a deficiency of an enzyme involved in the synthesis of cortisol, aldosterone, or both. Frequency About 1 in 10,000 to 18,000 children are born with congenital adrenal hyperplasia. Review of Related Anatomy and Physiology The adrenal glands are two bean-shaped glands curved over the top of the kidneys. It has a glandular (cortex) and neural tissue (medulla) parts. The central medulla region is enclosed by the adrenal cortex, which contains three separate layers. The adrenal cortex is responsible for producing three major groups of steroid hormones known as the corticosteroids. The hormones are the following: 1. Mineralocorticoids (aldosterone) – important in regulating the mineral or salt content in the blood, particularly the sodium and the potassium ions. The target organ of this hormone is the kidney tubules which is the one responsible for reabsorbing the minerals selectively or allowing them to be excreted out from the body. Increase aldosterone results to increase sodium retention by the kidney tubules and excretion of the potassium. When sodium increases the water also increases or follows. Thus, mineralocorticoids help in the regulation of water and electrolyte levels (equilibrium) in the body. 2. Glucocorticoids (cortisone and cortisol) – promotes the normal cell metabolism which helps the body to counteract the stressors...

Words: 891 - Pages: 4

Premium Essay

Gender Identity

...their impression on us as children. The differences in a man or woman’s sexual organs is a key factor. Girls and boys normally have very easily identifiable organs, these organs change, as they grow older. During puberty, a lot of things change and these organs become more defined and functional. The body releases chemical messenger compounds that tell the body to change its current status. Males have more adrenal hormones than girls do do. However, information provided from the site http://www.mentalhelp.net/ says, “some boys and girls are born with a condition called congenital adrenal hyperplasia (CAH), which causes them to have significantly higher levels of androgens than their non-affected peers. Scientists have studied children with CAH in order to understand how their extra androgen levels affect behavior. Boys with excess androgens play and behave much like normal male peers. However, girls with high androgen levels tend to display more gender-stereotypic male traits’’ behavioral traits are effected in a way but do not have to bad.In some situations girls with CAH can have genitalia that look like male genitalia.. Females have two "X" chromosomes, while males have both a singular "X" chromosome and a singular "Y" chromosome’’. There have been many people who have had surgiers to look more like the sex they want to be. Although you can change the exterior looks, there will normally be a lot of male or female traits and actions that the person will do, uncharchteristic...

Words: 769 - Pages: 4

Free Essay

Engineer

...AIIMS NOVEMBER 2011 Mcqs with answers 66-105 still 95questions remaning post it soon 66.A patient presents with pain over the thumb, index and middle finger. All of the following tests are done except a.Finkelstein test b.Tinel test c.Phalen test d.Torniquet test ans=c 67. Which of the following is not involved in translation in eukaryotes? a.Ribosome b.Peptidyl transferase c.Aminoacyl tRNA d.RNA polymerase ans=d 68. Ossification centre first appears at – a.end of 2nd month b.beginning of 2nd month c.end of 3rd month d.beginning of 3rd month ans=a 69. A patient presents with proptosis and pain after 4 hrs of injury. A bruise is noted in the eye and frontal area? a.Cavernous sinus thrombosis b. Internal carotid artery aneurysm c. Carotico-cavernous fistula d.Sphenoid fracture ans=dntknw soii 70.Efavirenz acts through the following mechanism a.Protease inhibitor b.Preventing HIV entry into cell c.Reverse transcriptase inhibitor d.Integrase inhibitor ans=c 71.Anticoagulant of choice for coagulation test? a.3.5% sodium citrate b.EDTA c.Heparin d.Sodium oxalate ans=b 72.Adverse(deleterious) effects of hypothermia are all except: a.Cardiac arrythmia b.Decreased peripheral resistance c.Reversible coagulopathy d.Renal failure ans= dnt knw 73.Eosinophilia is not seen with? a.Contrast nephropathy b.Drug induced nephropathy c.Atheromatous plaque d.Polyarteritis nodosa ans= dnt knw ...

Words: 1061 - Pages: 5

Premium Essay

Gender Development

...Nature vs. Nurture in Gender Development The interest in the Interaction between hormones and behavior is not new there has long been a question of whether an individual is born with a specific identity or whether they are nurtured or pushed into a certain role, and how well they can adapt to and assimilate into a specific gender. First it is important to understand that gender is complicated and consists primarily of of three elements. The Gender role, this is the assumption of behavioral traits which are either masculine or feminine and considered to be correct or characteristic of a specific sex. The second element of gender is gender identity; this is a individuals private and personal sense of their sex. Third is an individual’s sexual orientation, which encompasses is individual’s desire for other individuals of similar or different genders from themselves. Sex is a biological term and it is used to distinguish the gender referring to the actual functional differences between males and females, an individual’s sex is the genetic difference an individual’s sex is encoded their chromosomes. Gender is a psychological term encompassing several different elements, this is a person’s psychological, biological, and sociological factors and the individuals feelings about sex. Gender role is the assumption of behavioral traits that are markedly masculine or feminine, and typically the traits are what are socially deemed to be appropriate or characteristic of a certain sex...

Words: 1764 - Pages: 8

Premium Essay

Effects of Mass Media

...Gender Identity August 5, 2013 Gender Identity Paper Gender identity and sexual differentiation form a complex, interrelated paradigm involving genetic inheritance, internal and external physiology, endocrinology, neurological structure, sexual orientation, and socio-environmental factors. Before the 1950’s gender assignment at birth was a matter of ‘predominant sex’; in other words, dependent on external genitalia, structure of gonads, and sex chromosomes (Cohen-Kettenis, 2005). In the wake of the behavioral-cognitive movement that sprang up shortly thereafter, the ‘psychosexual neutrality’ theory was embraced, built upon the supposed, all-encompassing mechanism of experiential learning. More recently a policy of ‘optimal gender’ has been adopted, in which gender assignment is based on reproductive abilities, overall psychological functionality, and psychosexual efficacy. Regardless of which policy is used for gender assignment, an understanding of the underlying genetic, hormonal, and environmental factors involved in sexual differentiation is the key to elucidating the more complicated subjects of gender identity and sexual orientation. When the 23 single chromosomes of the male sperm and female ovum combine to create a genetically unique human zygote, complete with 23 pairs of chromosomes, it is the 23rd chromosome that determines genetic sex (Wickens, 2005). If the alleles of the 23rd chromosome are both an X, then the zygote is genetically female; if one X and one...

Words: 1134 - Pages: 5

Premium Essay

Pyschology

...it does determine an individual’s sex, this causes changes to the embryo from a very early stage. Usually there is a direct link between our chromosomes and our internal/ external reproductive organs. It is these chromosomes that stat a chain of events that establish the individuals sex. Chromosomes determine a person’s sex but most gender development is actually governed by hormones. Hormones are released prenatally and in adolescence when we are exposed to a surge of hormones during puberty. To study hormones Congenital adrenal hyperplasia is looked at, this is an inherited disorder, present at birth which affects babies adrenal glands and therefor their ability to produce certain hormones. Research into this is Hines and Kaufman, they found girls with CAH played equally with boys and girls Whereas biologically normal girls choose their sex 90% of the time. This supports the theory that genes determined gender development as the change in genes caused by CAH resulted in these girls behaving differently and not being split into gender groups like a genetically normal gender. One evaluation to this study is that it lacks control, as it was a case study there was little if any control, there were lots of effecting extraneous variables that could of have an impact in the results this making the study not able to prove the theory and doesn’t show the effects hormones have on gender. Hormones may have a direct link on the brain and therefor explain gender development...

Words: 801 - Pages: 4

Premium Essay

Genetic Screening Analysis

...“This test screens newborns for different genetic and metabolic conditions including; phenylketonuria (PKU), medium chain acyl-CoA dehydrogenase deficiency (MCADD), and congenital adrenal hyperplasia (CAH)” ("Expanded newborn screening using new technologies. Financial, ethical, legal and social issues," 2014). MS/MS automated testing has proven quicker, more accurate, and less expensive than previous methods. States that have adopted this cost effective technology, are able to continue to provide the service free of charge and have improved turnaround time for results. Requirements and testing performed on newborns is solely dependent on the state in which they are born. All states are required to screen newborns, however some states...

Words: 504 - Pages: 3

Premium Essay

Republic vs Cagandahan Full Case

...Republic  of  the  Philippines   SUPREME  COURT   Manila   SECOND  DIVISION     G.R.  No.  166676     September  12,  2008   REPUBLIC  OF  THE  PHILIPPINES,  Petitioner   -­‐  versus  -­‐   JENNIFER  B.  CAGANDAHAN,  Respondent.     DECISION   QUISUMBING,  J.:   This   is   a   petition   for   review   under   Rule   45   of   the   Rules   of   Court   raising   purely   questions   of  law  and  seeking  a  reversal  of  the  Decision[1]  dated  January  12,  2005  of  the  Regional   Trial   Court   (RTC),   Branch   33   of   Siniloan,   Laguna,   which   granted   the   Petition   for   Correction  of  Entries  in  Birth  Certificate  filed  by  Jennifer  B.  Cagandahan  and  ordered  the   following   changes   of   entries   in   Cagandahan’s   birth   certificate:   (1)   the   name   "Jennifer   Cagandahan"  changed  to  "Jeff  Cagandahan"  and  (2)  gender  from  "female"  to  "male."   The  facts  are  as  follows.   On  December  11,  2003,  respondent  Jennifer  Cagandahan  filed  a  Petition  for  Correction   of  Entries  in  Birth...

Words: 3546 - Pages: 15

Premium Essay

Different Disease Relating Diferernt Types and Suitions

...1-E27.2 | ICD-9 | 255.4 | DiseasesDB | 222 | MedlinePlus | 000378 | eMedicine | med/42 | MeSH | D000224 | Addison’s disease (also Addison disease, chronic adrenal insufficiency, hypocortisolism, and hypoadrenalism) is a rare, chronic endocrine disorder in which the adrenal glands do not produce sufficient steroid hormones (glucocorticoids and often mineralocorticoids). It is characterized by a number of relatively nonspecific symptoms, such as abdominal pain and weakness, but under certain circumstances, these may progress to Addisonian crisis, a severe illness which may include very low blood pressure and coma. The condition arises from problems with the adrenal gland, "primary adrenal insufficiency", and can be caused by damage by the body's own immune system, certain infections, or various rarer causes. Addison's disease is also known as chronic primary adrenocortical insufficiency, to distinguish it from acute primary adrenocortical insufficiency, most often caused by Waterhouse-Friderichsen syndrome. Addison's disease should also be distinguished from secondary and tertiary adrenal insufficiency, which are caused by deficiency of ACTH (produced by the pituitary gland) and CRH (produced by the hypothalamus), respectively. Despite this distinction, Addisonian crises can happen in all forms of adrenal insufficiency. Addison's disease and other forms of hypoadrenalism are generally diagnosed via blood tests and medical imaging.[1] Treatment involves replacing the...

Words: 2181 - Pages: 9

Premium Essay

Social Impact Reflection

...Generally, people are attracted to others of the opposite sex, and therefore it is the norm for a couple of the opposite sex to be married. For such a reason, the marriage law was originally enacted to only allow a couple of the opposite sex to be legally married. However, for the past decade, there have been controversies regarding the marriage law—whether or not it should expand to allow same-sex marriages. A decision on such an issue is undeniably difficult as it not only affect the society, but also future generations. I believe that the marriage law should be taken into account on current theories of sexual identity because every individual is unique and we should not expect them to be part of the norm. The development of sexual identity is a complex process and there are many factors that may affect it—genes, prenatal hormones, socialization, and many more that we have yet to discover. For this reason, we should consider all of these possible factors before calling someone a queer or setting the marriage law. First, when a woman becomes pregnant, her body will undergo so many changes that sometimes the baby will be born with an extra X chromosome (Klinefelter’s syndrome). Though a person who is born with this syndrome usually have a male sexual identity, but the incapability for him to produce testosterone will cause breast developments so this factor may change his sexual identity. In other words, when a person with Klinefelter’s syndrome reaches puberty and breast development...

Words: 681 - Pages: 3

Premium Essay

Pyc4805 Mindmaps

...PYC4805     DEVELOPMENTAL  PSYCHOLOGY   (Child  development)     April  2015     Assignment  1   Unique  number:  576231     Student  number:  33692513   Liezel  van  Beek   Ques%on  1:     HOW  COMPLEX  ABILITIES  OF  NEWBORNS  AND  INFANTS  CONTRIBUTE  TO  THE  FORMATION  OF  FIRST  SOCIAL  RELATIONSHIPS   EXAMPLES:   CULTURAL   DIFFERENCES   -­‐Co-­‐sleeping     -­‐Soothing  techniques   -­‐Sling  carrying   -­‐Motor  development   SLEEPING     -­‐5  STATES   (NREM,  REM,  Drowsiness,   Quiet  alertness,  Waking   ac^ve/crying)   -­‐Dev.  Nervous  System   -­‐(Dis)organised  behaviour   CRYING   STATES   -­‐Physical  needs   (hunger,  temperature,   noise,  pain)   -­‐Crying  when  other  babies   cry   -­‐Abnormal  crying   -­‐Communicate   with  caregivers   -­‐React  to   other’s   suffering   (empathy)   EXAMPLES:   -­‐Eye  blink   -­‐Roo^ng   -­‐Sucking   -­‐Swimming   -­‐Moro   -­‐Palmar  grasp   -­‐Tonic  neck   -­‐Stepping   -­‐Babinsky   REFLEXES   Parent/child  bonding   Sensory  s^mula^on  –   alert,  calm  disposi^on   Rhythm  affect     Actude  &    interac^on   -­‐Communicate  ...

Words: 789 - Pages: 4

Premium Essay

Sexuality Essay

...Jamari Lawrence December, 1st, 2015 Prof. Jones Sex, Gender and Sexuality Evaluation of the Queer Theory Embedded deep within the psyche of modern society, gender is a persistent feature of everyday life. It creates normalized behaviors and characteristics for each person, holding them accountable for even the most trivial actions. Individuals are not supposed to step outside the binary male-female framework, otherwise they risk backlash as an attempt to force them back into culturally designated roles. This binary is disturbed by the very existence of intersex individuals – as they cannot be placed into 100% male or 100% female on a binary scale. One of the areas where intersex has caused complications is in organized sports, specifically the Olympics. Since the International Olympic Committee (IOC) requires athletes to be divided into men and women in the various events, the interjection of intersex individuals causes complications with the preexisting system. In societies worldwide, many people are conditioned to believe there are only two genders. However, to many other people this is a misinformed view. In reality there are people who believe that there are hundreds of societies on a world wide level that recognize genders outside the gender binary according to PBS's Independent Lens program. In this essay, I’ll look at how broadly defined groups of family life, the media, work, and politics play in the current gender differences in America, as well as...

Words: 3524 - Pages: 15

Free Essay

Gender Identity

...development. For instance, boys and girls are born with distinctive sexual organs, and become further differentiated when secondary sexual characteristics emerge upon puberty. Naturally occurring chemical messenger compounds in the body known as hormones are responsible for coordinating the appearance of these physical differences. Some research suggests that the same sex hormones that enable sexual organ differentiation in utero and which later trigger puberty also plays an important role in shaping gender identity. Boys tend to have more androgens (male sex hormones) than girls. However, some boys and girls are born with a condition called congenital adrenal hyperplasia (CAH), which causes them to have significantly higher levels of androgens than their non-affected peers (Rathus, Nevid, & Fichner-Rathys, 2011). Scientists have studied children with CAH in order to understand how their extra androgen levels affect behavior. Boys with excess androgens play and behave much like normal male peers....

Words: 1084 - Pages: 5

Premium Essay

The Effects of Hormones and Behavior on Gender Identity

...Dameka Towner PSYC 340 07/29/13 The effects of Hormones and behavior on gender identity Gender development begins when a baby is conceived, which why most women want to know the sex of their child as soon as possible. Boys and girl are treated different from the day they are born, causing the environment- nurture to affect gender development. Although nurture has a major influence on gender development, biological factors-nature also play a major part in the effects of gender development. In this paper the discussion that will address is the interaction between hormones and behavior and how they affect gender identity, also how the argument of how nature and nurture is the main affect gender identity. Biological factors play a huge role in children’s growth development. For example, boys and girls develop with a significantly different sex organs, and they also become more different when the onset of puberty sets in. Puberty is when the chemical messenger called hormones start to help with the formation of appearance from the physical changes occurring inside the body of an adolescent. According to Oswalt & Dombeck (2013), some researchers introduced the thought of same sex hormones that make sex organs differentiation in the uterus, which later triggers puberty. Naturally, human bodies go through the stage of puberty, and hormones have a lot to do with the development of the individual body during the onset of puberty. Hormones are leading players in the body’s...

Words: 1253 - Pages: 6

Premium Essay

Discuss the Roles of Genes and Hormones in Gender Development

...Outline and evaluate the role of genes and/or hormones in gender development (8 + 16 marks) AO1 – Outline of the the role of genes and hormones in gender development Biological sex is determined by genes, which are on chromosomes. Humans generally have 23 pairs of chromosomes, one pair of which determines sex. Females have an XX pair while males have an XY pair. Chromosomal sex largely controls how masculine or feminine the egg's development will be. Chromosomal sex controls whether an embryo will develop ovaries or testes. The Y chromosome, which only males possess, will cause the gonad (the organ which produces sex cells) to develop into testes. External genitalia strongly influence gender development, through the effects of the hormones which they produce. Androgens (male hormones) such as testosterone, which the testes produce when the foetus is about 3 months old, stimulate the development of male sex organs. Genetic females who are exposed prenatally to high levels of androgens may therefore develop ambiguous genitalia and the baby may appear externally to be male. Similarly, genetic males who are insensitive to androgens may appear externally to be female - this condition is known as androgen insensitivity syndrome (AIS). Hormones also have a powerful effect on the development of the brain. Females and males have different brains, with females generally being better at social skills such as empathising and males generally excelling at spatial skills. Testosterone...

Words: 1130 - Pages: 5