Turner Syndrome. Fisher Digital Publications

Transcription

1 St. John Fisher College Fisher Digital Publications Biology Undergraduate Biology Department Spring Turner Syndrome Munif Almansoob How has open access to Fisher Digital Publications benefited you? Follow this and additional works at: Part of the Biology Commons Recommended Citation Almansoob, Munif, "Turner Syndrome" (2015). Biology Undergraduate. Paper 3. Please note that the Recommended Citation provides general citation information and may not be appropriate for your discipline. To receive help in creating a citation based on your discipline, please visit This document is posted at and is brought to you for free and open access by Fisher Digital Publications at St. John Fisher College. For more information, please contact fisherpub@sjfc.edu.

2 Turner Syndrome Document Type Undergraduate Project Department Biology First Supervisor Edward Freeman Subject Categories Biology This undergraduate project is available at Fisher Digital Publications:

3 Turner Syndrome MUNIF ALMANSOOB

4 What is turner syndrome? A complete or partial loss of an X-chromosome Affect only females

5 Symptoms

6 Features/ Complications Webbed nick Short Suture precocious puberty Ovaries loss of function

7 Features/ Complications continued.. Also have been linked to Diabetes Heart diseases Kidneys diseases Weaken bones

8 Precocious puberty A report study showed a 7 year old with turner syndrome developing breast An increase the level of FSH Precocious Puberty can lead to more complications Amenorrhea- absence of menstruation

9 More complications An experiment showed the detection of Y- chromosome in a female Chromosomal genes were detected using (PCR): SRY (male sex determining gene) DYZ3 (Chromosomal stability gene)

10 ovarian tumor and high level of testosterone in patient A ovarian follicles were Absent patients B and C

11 These conditions are associated with excessive production of androgen

12 Cause Missing copies of chromosome in some or all the cells Monosomy- missing an X from the pair XX (45,X)

13 Karyotype test photograph of chromosome

14 Is turner syndrome inheritable? Not really! Very small chance However.problem still exist This study from Malaysia shows a mother with turner syndrome passing her abnormal chromosome to both of her daughters

15 Chromosome analysis of (A) elder daughter (above) and younger daughter (below) The arrows show an extra chromosome X

16 Chromosome analysis of the mother Of the 30 cells examined, 13 cells showed a 45,X karyotype

17 Diagnoses Turner syndrome can be detected at early stages A study in Haifa Israel showed an evidence of turner syndrome early pregnancy (14-16 weeks of gestation

18 Huge separated cystic hygromas larger than fetal head diameter in (A, B) two different fetuses with Turner syndrome at 15 weeks of gestation

19 Treatments Unfortunately no treatment for Turner syndrome, but Medical technology can help with.. Growth hormone therapy Estrogen hormone replacement Ovarian/ egg preservation

20 Hormone Therapy Growth hormone therapy Growth hormone can be used to increase growth and height Estrogen replacement therapy Introduction of FSH and other reproduction hormones can help in growth of reproductive secondary sexual characteristics

21 Cryopreservation The preservation of tissues or cells by cooling to belowzero temperature Photo The preserved tissues can then be implanted near the oviducts

22 Three scenarios for a fertility preservation to be successful spontaneous menarche confirmation by ultrasound examination of the presence of at least one normal ovary serum FSH concentrations below 40 IU/l

23 Case Study 28 young females with Turner's syndrome were studied to examine the practicability of fertility preservation

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25 Things can go wrong! Preservation is not 100% to work correctly Clinical research center studied the consequences of pregnancy on females with Turner's syndrome Pregnancies in TS women. 87.7% of participants had no children. 9.1% chose to adopt children, 1.4% had spontaneous pregnancies, 1.4% achieved only assisted pregnanciesm, and the remaining 0.4% experienced both spontaneous and assisted pregnancy.

26 Phenotype of TS women with spontaneous pregnancies

27 C. Sections for most of the pregnant patients

28 Cardiovascular complications a Aortic diameters were measured at the sinus of Valsalva (SV), sinotubular junction (STJ), ascending aorta at the level of the right pulmonary artery (AA) and descending aorta (DA) at the same level. b Nulliparous women were matched to parous women by age (40.0±1.0 versus 38.4±3.3 years, respectively) and aortic structure (there were no individuals with aortic coarctation).