Role of Genetics And Epigenetics in Male Infertility Essay Paper

Case Study 3: Infertility

Infertility is a complex and emotionally challenging condition that affects many couples worldwide. It is defined as the inability of couples under the age of 35 to conceive after one year of regular unprotected intercourse or the inability of couples over the age of 35 to conceive after six months of unprotected sexual intercourse. This paper is based on a case presentation of a 28, and 29-y/o married couple, who presented to the clinic with a chief complaint of inability to get pregnant despite not having been using any routine care since college. The paper discusses additional subjective and objective information including the comorbid condition that needs to be obtained for a proper diagnosis. The paper also discusses National Guidelines appropriate to this case, diagnostic tests, differential diagnosis, treatment plans, and specific patient education. Role of Genetics And Epigenetics in Male Infertility Essay Paper

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Subjective assessment

Chief complaint: concern about their inability to get pregnant despite not using any routine care. Stating, “We do not know where to begin so we thought we would have complete physicals. We know we need immunizations. Someone told us we should also get checked for chlamydia infections.”

HPI: A couple, a 28-y/o female and a 29-y/o male patient presented to the clinic with a complaint of inability to conceive despite not having had any routine care since college.  The couple expresses their desire to have complete physical examinations to assess their overall health and address their concerns about infertility and that they are aware of the need for immunizations. They also mention being advised to get checked for chlamydia infections. Role of Genetics And Epigenetics in Male Infertility Essay Paper

History

Since their primary concern is centered on the inability to conceive, there is a need to ascertain when they become concerned about their fertility, the number of times the couple have actively tried to conceive without success, the frequency of sexual intercourse including whether they have been engaging in regular or timed intercourse to optimize their chance of conception and if they were using any form of contraception since college and whether they stopped specifically to conceive. Any drug that they are currently on, immunization, and lifestyle factors including their use of alcohol, and tobacco, stress level, and dietary habit must be assessed. Family history of infertility or reproductive disorders in either partner including any known genetic conditions that could affect fertility must be assessed (Gunes et al.,2021).

The female partner needs to be encouraged to clarify on regularity and duration of her menstrual cycles, including any changes she has noticed in menstrual flow, any associated ovulatory pain, bloating, and breast tenderness. She needs to clarify any previous pregnancies, deliveries, miscarriages, or any known complication and whether she has suffered from any sexually transmitted infection before. She needs to clarify any known medical or surgical including whether she has suffered from thyroid as this may affect her fertility. Her exercise routines, stress levels, and more particularly weight changes must be assessed. There is also a need to ascertain the presence of abnormal vaginal discharge or a history of trauma. Role of Genetics And Epigenetics in Male Infertility Essay Paper

There is a need to obtain the history of sexual development during puberty from her male partner including the timing of testicular descent and the presence or absence of any abnormalities. The patient sexual function including concerns related to sexual performance, libido, or satisfaction must be assessed. Any history of surgery especially those that may affect reproductive health such as testicular surgery must be assessed. The patient history of chronic illnesses including mumps orchitis and prostatitis must be assessed. The history of STIs including chlamydia or gonorrhea must be assessed as they may impact fertility. His occupation and environmental exposure must be assessed as exposure to some toxins may impact one’s fertility.

ROS

In this section, there is a need to acquire information on fertility, sexual health, and recent changes in weight as weight is of concern in fertility issues. There is also a need to acquire if the female partner has noted any abnormal vaginal discharge, bleeding, or pelvic pain. Their endocrine system must be evaluated to assess for any symptoms of thyroid dysfunction, such as cold intolerance or excessive sweating. Any notable changes in the skin including an upsurge in acne, hirsutism, and abnormal hair loss must be acquired. The information on their musculoskeletal system including issues with mobility, and joint pain must be acquired and noted. The patients must be assessed for any symptoms of anxiety, depression, or stress that may affect fertility. A history of chronic cough, or respiratory infection must be obtained and noted. Any history of heart disease, abnormal heartbeat, palpitation, and chest pain must be acquired to rule out cardiovascular disorders. The client must be asked for symptoms of abdominal pain or malabsorption. Their neurological symptoms including headache and sensory loss must be assessed Role of Genetics And Epigenetics in Male Infertility Essay Paper

Objective data:

Additional objective data that would be necessary in this case include an examination of the client’s general appearance and body habitus including an examination of signs of obesity. The heart sounds and lung field must be auscultated and the result noted. The abdomen must be asses for tenderness, or masses. The female partner’s pelvic area and the male partner’s testicular area must be examined to assess for any anatomical abnormalities or signs of infection. Their BMI must also be measured to rule out obesity. The rectal examination would also be necessary to assess the presence of prostate issues including cancer in male patients.

Co-morbid conditions

The comorbid condition that needs to be investigated via physical examination includes signs of polycystic ovary syndrome (PCOS) such as the presence of hirsutism, acne, and enlarged ovaries (Joham et al.,2022). There is also a need to examine signs of testicular abnormalities or infection including examining the presence of palpable masses, tenderness, or swelling as these will help rule out physical signs of reproductive or hormonal that may impact fertility. Role of Genetics And Epigenetics in Male Infertility Essay Paper

Diagnostic tests:

The diagnostic test that would need to be ordered in this case includes CBC to assess for any underlying hematological disorders that may affect fertility, and transvaginal ultrasound to assess structural abnormalities or signs of PCOS in the ovaries, uterus, and fallopian tubes. There is also a need for hormonal evaluation including evaluating serum levels of FSH, LH, estradiol, and testosterone to rule out abnormality in ovarian or testicular function (Bräuner et al.,2020). Furthermore, a semen analysis test needs also to be ordered to rule out abnormality in sperm count, motility, and morphology. There is also a need for nucleic acid amplification tests (NAAT) to detect the presence of chlamydia infection.

Assessment

Medical diagnosis:

Infertility (N46, and N97.9)

Based on the client’s medical history, the primary diagnosis is likely to be infertility. Nevertheless, the patient did not report the duration of time they have been having unprotected sex in an attempt to conceive. Role of Genetics And Epigenetics in Male Infertility Essay Paper

Differential diagnoses:

Differential diagnosis probable in this case includes Polycystic ovary syndrome (PCOS), endometriosis, Chlamydial infection, hypogonadism, and hyperthyroidism.

Treatment plan:

The treatment for the couples, in this case, must be based on the finding from their medical history, their physical exam, and diagnostic test. If both patients are found to be positive for chlamydia, they need to be put on PO Doxycycline 100 milligrams BD for seven days and PO metronidazole 400mg TID for 5 days (Lau et al.,2021). Additionally, if any abnormality is discovered on the client upon pelvic examination, she should be referred to an OB/GYN for further examination. If the client’s sperm count is found to be less by semen analysis, he needs to be referred to a urologist for further help. Role of Genetics And Epigenetics in Male Infertility Essay Paper

National guidelines

The national guideline that can be applied in this case is the United States Preventative Services Task Force (USPSTF) which outlines the need for cervical cancer screening for women 25 years and above. These guidelines recommend that all women at 25-y/o and above undergo a pap smear every three years (Gavinski et al.,2023). For women turning 30-y/o, the guideline recommends cancer screening either using cytology every three years or HPV testing every five years (Grade A). Following these guidelines ensures regular screening for cervical cancer and earlier detection of any abnormalities.

Healthy People 2030

Obesity is a key factor in infertility and is associated with various health issues like cancer, diabetes, and cardiovascular disorders. The Healthy People initiative aims to decrease obesity rates by encouraging weight loss strategies such as adopting a healthy, balanced diet and incorporating regular physical activity into daily routines. Additionally, Healthy People 2030 focuses on promoting reproductive health by increasing the proportion of planned pregnancies through education, access to contraception, family planning services, and preconception care (Stowell et al.,2022). It also emphasizes the importance of routine check-ups, screenings, and comprehensive reproductive healthcare for both men and women. Role of Genetics And Epigenetics in Male Infertility Essay Paper

Specific patient teaching:

There is a need to enlighten patients on the importance of regular sexual intercourse during the fertile window. These couples must be counseled on healthy lifestyle practices that can improve fertility including maintaining a healthy weight, avoiding smoking and excessive alcohol consumption, and managing stress levels. The need for regular gynecological and urological check-ups for overall reproductive health must be stressed for better outcomes. They must be enlightened that certain medical condition role some medication play

References

Bräuner, E. V., Nordkap, L., Priskorn, L., Hansen, Å. M., Bang, A. K., Holmboe, S. A., … & Jørgensen, N. (2020). Psychological stress, stressful life events, male factor infertility, and testicular function: a cross-sectional study. Fertility and sterility, 113(4), 865-875.

Gavinski, K., & DiNardo, D. (2023). Cervical Cancer Screening. Medical Clinics, 107(2), 259-269.

Gunes, S., & Esteves, S. C. (2021). Role of genetics and epigenetics in male infertility. Andrologia, 53(1), e13586.

Joham, A. E., Piltonen, T., Lujan, M. E., Kiconco, S., & Tay, C. T. (2022). Challenges in diagnosis and understanding of the natural history of polycystic ovary syndrome. Clinical Endocrinology, 97(2), 165-173.

Lau, A., Kong, F. Y., Fairley, C. K., Templeton, D. J., Amin, J., Phillips, S., … & Hocking, J. S. (2021). Azithromycin or doxycycline for asymptomatic rectal Chlamydia trachomatis. New England Journal of Medicine, 384(25), 2418-2427.

Stowell, M. A., Thomas-Gale, T., Jones, H. E., Binswanger, I., & Rinehart, D. J. (2022). Perspectives among women receiving medications for opioid use disorder: Implications for the development of a peer navigation intervention to improve access to family planning services. Substance abuse, 43(1), 722-732.

A married couple presents to the office. They have requested to be seen together. The female is 28 years old and the male is 29 years old. They report they have not had any routine care since college. They are concerned that they can not get pregnant.

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CC: “We do not know where to begin so we thought we would have complete physicals. We know we need immunizations. Someone told us we should also get  checked for chlamydia infections.” Role of Genetics And Epigenetics in Male Infertility Essay Paper

Past medical history: None

Vital signs: Female: Blood pressure: 126/88; height, 5΄΄; weight, 185 lbs.

Male: Blood pressure: 130/98; height 6 feet, weight 170 lbs

Questions:

Subjective data: What subjective data should the APN obtain? How is the complaint investigated ie HPI?
This area should discuss history, ROS, and HPI format.

2. You will reassess to verify the presented information. For what additional objective data will you assess and why?

3. What co-morbid conditions should be investigated through the physical exam, how and why?

4. What National Guidelines are appropriate to this case? What do the guidelines state?

What level of evidence supports these guidelines?

5. What diagnostic tests will you order? Why do they apply to this case? What is the sensitivity and specificity? When it is positive or negative what does that mean?

6. What is your medical diagnosis? What are the differential diagnoses? Role of Genetics And Epigenetics in Male Infertility Essay Paper

7. Treatment plan should clearly state what exact orders you are ordering. All medications must have a name, a dose, a route, and a frequency. The diet must be specific. The diagnostics must be specific. Do not say XRAY say type of Xray ie AP/Lat chest Xray

8. Are there any Healthy People 2030 goals that you should consider? How will you promote health with this case? How does it meet the 2030

9. What specific patient teaching is needed? Do not say “how to use an inhaler” state exactly what you will teach

10. What billing codes would you recommend? This must include the CPT code for outpatient office visits. ICD classify diagnoses ie HTN i10, CPT codes are 992–, Describe the difference between the first visit billing code and follow up billing code.
11. Follow up and evaluation. When will the next office visit occur? What will you assess? How will you revise the plan based upon this assessment? For instance, if you are assessing the HgbA1c and it is 9, what will you order? If it is 6.5 what will you do?  Role of Genetics And Epigenetics in Male Infertility Essay Paper