Answer

Week 13 – Case Study A and B

Galen (Case Study A)

Galen’s condition is referred to as cryptorchidism. This is a condition in which a testicle fails to descend to its proper position in the scrotum before birth. Typically, just one testicle fails to descend. Few cases affect both testes (Fawzy et al., 2015). Cryptorchidism occurs is 2.4% to 5% of newborns. The condition increases the risk of infertility (Niedzielski, Oszukowska, & Slowikowska, 2016).

Risk factors include premature birth, low birth weight, alcohol use by the mother during pregnancy, family history of genital development problems or family history of undescended testicles, and fetal conditions such as abdominal wall defect or Down syndrome which can restrict growth. Other import risk factors associated with cryptorchidism include exposure to secondhand smoke or cigarette smoking by the mother and mother’s or father’s exposure to pesticides (MayoClinic, 2018). Additional risk factors include cesarean section, toxemia of pregnancy, second- or first-born boys, and congenital subluxation of hip, seasonality especially winter, perinatal asphyxia, and intrauterine growth restriction (Niedzielski, Oszukowska, & Slowikowska, 2016) .The above factors increase the risk of occurrence of the condition.

The testicle would often descend without treatment by the age of six months. Spontaneous testicular descend becomes less likely after six months (Fawzy et al., 2015).  If the testicle fails to descend on its own, then a surgical intervention is indicated. Surgery is a treatment of choice. A surgical operation is necessary so as to help relocate the undescended testicle into the scrotum. Orchiopexy is characterized by an average of 95% success rate and complications in only 1% of cases. Orchiopexy should be conducted 12 to 18 months of age. Another treatment modality is hormonal treatment; although, it is not recommended since it is characterized by a 15 to 20% success rate. Besides, hormonal treatment is associated with long-term adverse effects that affect spermatogenesis (Niedzielski, Oszukowska, & Slowikowska, 2016).

Reproductive Disorders (Case Study B)

Ulnar-mammary syndrome, also referred to as Schinzel syndrome or Pallister ulnar-mammary syndrome, is a rare reproductive disease that is present from birth. It is a genetic syndrome that affects the development of various body parts. Pathophysiological manifestations of this condition can vary from one person to another; it can be severe to mild. The main signs and symptoms include underdeveloped apocrine and mammary glands resulting inability to secrete breast milk or absence of developed breasts. It is also associated with upper limb defects characterized by incomplete or abnormal development of the forearm and fingers (National Center for Advancing Transnational Sciences, 2018). Key ulnar-mammary syndrome clinical features include ulnar ray defects that can vary from complete absence of the ulna to fifth finger deformities, genital hypoplasia, abnormal teeth, and delayed puberty. Additional clinical manifestations include congenital heart defect and cardiac conduction abnormality (Zlotina et al., 2018).

Ulnar-mammary syndrome is a hereditary disorder. It develops as a result of mutations in the TBX3 (T-box transcription factor 3) gene. Its heredity pattern follows the autosomal dominant fashion.  However, not all individuals who inherit or have a TBX3 gene mutation will develop the characteristic features of the disease (National Center for Advancing Transnational Sciences, 2018). TBX3 gene is located on chromosome 12q23-24.1. TBX3 gene is important for embryonic stage body patterning, especially mapping of the extremities. TBX3 gene expression is in the upper limbs, placenta, mammary glands, bladder, heart, uterus, liver, pituitary gland, adrenal gland, and thyroid glands (Loyal & Laub, 2014).

Signs and symptoms of this disorder include delayed puberty, hormonal deficiencies, short stature, dental problems, and obesity. In addition, individuals who have the disease may present with distinct facial characteristics including a broad nose and a wide face that is tapering to a prominent chin. Other signs and symptoms include poor temperature regulation, absence of axillary hair, abnormal fingernails, underdeveloped/absence of inner forearm bone, and uterine abnormalities. Less than 150 cases have been described in literature to date (National Center for Advancing Transnational Sciences, 2018). 

It is challenging to diagnose ulnar-mammary syndrome just like other rare genetic disorders. Diagnosis includes examination of a patient’s medical history, evaluation of signs and symptoms, performance of a physical exam, and performance of laboratory tests (National Center for Advancing Transnational Sciences, 2018). Pathologic mutation of TBX3 gene that leads to development of ulnar-mammary syndrome is diagnosed with bidirectional Sanger sequencing of TBX3 protein-coding regions. High-resolution micro-array comparative genome hybridization is also one of the helpful tools for diagnosing the condition (Zlotina et al., 2018).

Treatment of ulnar-mammary syndrome depends on specific presented signs and symptoms as well as the severity of the presented signs and symptoms. Surgical intervention may be indicated to improve the appearance and/or functionality of the limbs (National Center for Advancing Transnational Sciences, 2018). Surgical intervention can also help improve elbow range-of-motion (Loyal & Laub, 2014). On the other hand, hormonal replacement therapy may be indicated incase hormonal deficiencies are diagnosed (National Center for Advancing Transnational Sciences, 2018). Lastly, being an autosomal dominant disease genetic counseling is recommended for individuals who plan to have children (Orphanet, 2018).