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Variations:
45,X
45,X/46,XX
46,XY/45X

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Mutation of PAH gene on chromosome 12q23.2

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Mutation of PAH gene on chromosome 12q23.2

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Autosomal recessive disorder that is caused by mutation of both allele genes for PAH which is found on chromosome 12. It is an Inherited error of the metabolism that is caused by the deficiency in phenylalanine hydroxylase. (3)

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Caused by the large deletion of a single mtDNA which is the direct loss of genes that are essential for mitochondrial formation and the process of oxidative phosphorylation. This syndrome is not inherited but instead arises from mutation in cell body's that form after conception. (5)

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47, XXY

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Patients presenting with Turner Syndrome show symptoms of wide, web-like necks, low set ears, a high and narrow soft palate, arms that turn outward at the elbows, as well as fingernails and toenails that are narrow and turned upward. Patients may also experience developmental abnormalities in reproductive organs that may cause infertility, a lack of pubic hair, as well as a lack of a menstrual cycle.

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Mechanism: Occurs when part of or all of an X is missing 

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Mechanism: Occurs when part of or all of an X is missing 

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This occurs from error in formation of egg and sperm cell before conception. The loss of an X chromosome is sporicidal and usually not inherited. This is usually common in females and causes them to have either just one X chromosome rather than two or just have half of an X chromosome. When one whole chromosome is absent this is also referred to as monosomy. When there's only half of the X chromosome it can persist in one cell while other cells can still contain both X chromosomes, This is referred to as Mosaic Turner Syndrome. Both of which contain important genetic information for correct development.   The SHOX gene positioned on pseudo autosomal region 1 of X and Y chromosomes is to be the common missing factor that result in body dysmorphia and abnormality's. It also effects the X chromosome gene TIMP1 with TIMP3 on chromosome 22 by increasing the risk of bicuspid aortic valve and dilation.  (2)

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Women are specifically affected by Turner Syndrome
40-50% of women with 45,X karyotype
15-25% have mosaicism with 45,X/46,XXX
20% have isochromosome
10-20% of women have varying number of Y chromosome material
3% have 45,X/46,XY
(2)

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Patients presenting with Phenylketonuria (PKU) may show symptoms such as odor (of the skin, mouth, or urine), neurological deficits, seizures, skin rashes, fair skin and eyes, hyperactivity, as well as some psychiatric disorders.

Pregnant patients are at risk of developing the condition maternal PKU which can cause high blood phenylalanine levels which can cause serious complications in infants such as low birth weight, delayed development, facial abnormalities, heart defects, intellectually disabilities, and behavioral issues.

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Patients suffering from Kearns-Sayre syndrome usually begin to present with symptoms before the age of 20. Patients with this syndrome experience two different eye conditions, progressive external ophthalmoplegia (weakness or paralysis of the eyes) and pigmentary retinopathy which may cause loss of vision. Patients may also present with any one of the following symptoms; cardiac conduction defects, ataxia, or abnormally high levels of protein in the cerebrospinal fluid. Individuals are often shorter in height and may also experience muscle weakness in limbs, deafness, kidney problems, or dementia. (5)

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Klinefelter syndrome is a chromosomal condition present only in males. Patients are most commonly tall and experience infertility, primary testicular insufficiency, gynecomastia, decreased muscle mass, decreased bone density, and less facial and body hair. Some patients may also present with cryptorchidism, hypospadias, or a micropenis. Individuals may also suffer from anxiety, depression, impaired social skills, behavioral issues, ADHD, and poor executive function. 10% of patients are also diagnosed with autism spectrum disorder. Children that are diagnosed with Klinefelter may also have hypotonia, problems with coordination, learning disabilities.

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National Center for Biotechnology Information (US). (1998, January 1). Phenylketonuria. Genes and Disease [Internet]. Retrieved October 6, 2021, from https://www.ncbi.nlm.nih.gov/books/NBK22253/.

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Gravholt, C. H., Viuff, M. H., Brun, S., & Stochholm, K. (2019, June). (PDF) Turner Syndrome: Mechanisms and management. ResearchGate. Retrieved October 6, 2021, from https://www.researchgate.net/publication/333860267_Turner_syndrome_mechanisms_and_management.

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Somatropin (r-DNA) for injection:
Humatrope- for treatment of short stature and SHOX deficiency.
Nutropin AQ- for treatment of growth failure
(7)

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The mutation of PAH gene causes low levels of the enzyme phenylalanine hydroxylase resulting in low levels of phenylalanine in an individuals diet. The low levels express that this person cannot metabolize phenylalanine and is subjected to toxic buildup within the body causing PKU.
Inborn error in aminoacidic metabolism is what results in the gene mutation of PAH. The mutations can be either neutral in respect to phenotype or it can be pathogenic in result of disruption to the enzyme structure which in turn effects the function. There are multiple diseases that cause mutation in PAH gene seen in all 13 exons. Examples of this are missense mutation which result in 62% of of PAH affected alleles, small/large deletions make up 13%, and splicing defects 11%.  (1)

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As addressed in the Global prevalence of classic phenylketonuria based on Neonatal Screening Program Data: Systematic review and meta-analysis, the Worldwide prevalence of PKU is six people per 100,00 births. Estimates of different countries range from 38 people per 100,000 in turkey to being a low of 0.3 per 100,000 in Thailand. (3)

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Most common treatment for Phenylketonuria is having a strict diet and specifically eating food with a low amounts of PHE. Sapropterin (Kuvan)- December 2014 approved to help reduce blood PHE levels in patients with HPA due to BH4- responsive PKU. (to be used with PHE-restricted diet)
Pegvaliase (Palynziq)- May 2018 approved for the reduction of blood PHE concentrations in adults that have uncontrolled blood PHE concentrations greater than 600 mm/L.
(8)

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Occurs at random during formation of reproductive cells by an error in the cell division referred to as nondisjunction. This nondisjunction results in the reproductive cells having an odd number of chromosomes. The syndrome is due to the single extra copy of the X chromosome that give it the 47 per cell. This is usually a sex chromosome disorder in men.  (4)

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Estimated that 1-3 people per 100,00 will develop Kearns-Sayre Syndrome. The exact number affected is unknown. (5)

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Affects 1 in every 500 newborn boys. Considered the most common sex chromosome disorders, but variation of Klinefelter are rare, only occurring in 1 in 50,000 to 1 in 85,00 newborns. (6)

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Testosterone  Replacement
Breast removal or reduction surgery
Educational interventions
Therapy for speech, physical, behavioral, mental.
(6)

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Implant of cardiac pacemakers- for cardiac conduction blocks
eyelid slings- severe ptosis
Cochlear implants-for neurosensory hearing loss
Hormone replacement - for endocrinopathies
Dilation of upper esophageal sphincter- to alleviate cricopharyngeal achalasia
Folinic Acid- individuals with low cerebral spinal fluid folic acid
(5)

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Williams, R. A., Mamotte, C. D. S., & Burnett, J. R. (2008, February 29). Phenylketonuria: An inborn error of phenylalanine metabolism. The Clinical biochemist. Reviews. Retrieved October 6, 2021, from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2423317/.

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U.S National Library of Medicine. (2020, September 8). Klinefelter Syndrome. MedlinePlus. Retrieved October 6, 2021, from https://medlineplus.gov/genetics/condition/klinefelter-syndrome/#causes.

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U.S. Department of Health and Human Services. (2014, December 12). Kearns-Sayre syndrome. Genetic and Rare Diseases Information Center. Retrieved October 6, 2021, from https://rarediseases.info.nih.gov/diseases/6817/kearns-sayre-syndrome#:~:text=Most%20cases%20of%20Kearns-Sayre%20syndrome%20are%20not%20inherited%3B,this%20condition%20is%20inherited%20in%20a%20mitochondrial%20pattern.

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U.S. Department of Health and Human Services. (2015, October 13). Klinefelter syndrome. Genetic and Rare Diseases Information Center. Retrieved October 6, 2021, from https://rarediseases.info.nih.gov/diseases/8705/klinefelter-syndrome.

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U.S. Department of Health and Human Services. (2016, January 11). Turner syndrome. Genetic and Rare Diseases Information Center. Retrieved October 6, 2021, from https://rarediseases.info.nih.gov/diseases/7831/turner-syndrome.

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U.S. Department of Health and Human Services. (2021, February 1). Phenylketonuria. Genetic and Rare Diseases Information Center. Retrieved October 6, 2021, from https://rarediseases.info.nih.gov/diseases/7383/phenylketonuria.