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    Childhood Acute Leukemia with Unfavorable Cytogenetics: A Case of Monosomy 7
    (2017-03-14) Bowman, Paul; Vickery, Julia
    Purpose: Though not as common as acute lymphoblastic leukemia (ALL), acute myeloid leukemia (AML) represents a significant malignancy burden in pediatric populations. Survival rates are climbing as research improves our understanding of the disease process, but survival in AML remains below that of other childhood cancers. The purpose of this study was to examine a case of AML with unfavorable cytogenetics in the leukemia cells (monosomy 7) and observe the barriers to success in a high-risk patient. Methods: A recently diagnosed, 6-year old Hispanic male patient at Cook Children’s Medical Center was chosen for study because of his high-risk status due to monosomy 7 and challenging course of treatment and management. Medical records were reviewed for the entire course of his treatment, from diagnosis to eventual death. As the records were reviewed, special attention was paid to disease progression, resolution (or lack thereof) of risk factors, and development of treatment-related complications. Results: During the course of his treatment, the patient was diagnosed with monosomy 7-positive AML with central nervous system (CNS) infiltration. He endured two courses of intensive induction chemotherapy and underwent two unrelated cord blood stem cell transplants. Both transplants ultimately resulted in primary engraftment failure, and the second was followed by clinical deterioration and death. During the course of therapy, the patient suffered from severe treatment-related immunosuppression that enhanced his risk for a variety of infectious complications. Despite aggressive interventions by the medical team including 82 days in the intensive care unit, the patient’s status declined to irreversible multi-organ failure leading to the implementation of a palliative approach and the parents’ decision to withdraw aggressive life support. The patient died from complications of persistent bone marrow failure having failed to achieve hematopoietic recovery despite two stem cell transplants. Conclusions: Unfortunately, failure of treatment is not uncommon in patients with high-risk AML. The combination of monosomy 7 and CNS leukemia infiltration provided a poor prognosis at the time of diagnosis, and the patient was unable to overcome the complications of his disease and aggressive treatment course. New approaches to therapy based upon molecular targets and/or immune-based strategies are needed to offer a better prospect of survival for patients with high risk AML.
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    Efficacy of Celiac Plexus Blocks for Pain Control in Pediatric Patients with Visceral Hyperalgesia
    (2017-03-14) Brooks, Meredith; Hamby, Tyler; Lyssy, Lauren
    Objective: Visceral hyperalgesia (VH) is a condition characterized by increased sensitivity to painful stimuli, which often results in chronic abdominal pain. Irritation of the abdominal organs (associated with gastrointestinal disorders or an idiopathic etiology) modifies efferent neural transmission, resulting in hypersensitization of the viscera and a modified pain response. Symptoms classically include nausea, vomiting, bloating, and altered bowel habits. There are currently no diagnostic tests or standard treatments available. Present therapy for VH utilizes a multidisciplinary approach involving anti-neuropathic medications, behavioral therapy, and dietary modifications. There is some evidence that celiac plexus blocks (CPBs), typically employed for abdominal pain relief in adults and pediatric cancer patients, are effective for control of refractory visceral pain. In this study, we examined the effect of CPBs for control of chronic abdominal pain. To the best of our knowledge, this is the first report examining pain management in pediatric patients with VH. Materials and Methods: Three patients underwent CPBs at Cook Children’s Medical Center to treat VH: 1 case was associated with Crohn’s disease and 2 with hereditary pancreatitis. The subjects (2 females and 1 male) were all Caucasian and between the ages of 14- and 19-years old. A retrospective chart analysis was conducted to assess pain scores for the 2 days surrounding the CPB and to document the duration of pain relief. Results: All 3 patients experienced significant reduction in abdominal pain after the CPB. Follow-ups were conducted via telephone calls and office visits. Duration of pain relief varied from 4 to 19 weeks, before the patient experienced a relapse, which we defined as the recurrence of severe abdominal pain that necessitated a hospital admission. Conclusions: Due to the significant degree of pain relief, we suggest that CPBs be considered for pain management in pediatric patients with VH, as an addition to their multidisciplinary therapy. However, clinical follow-ups must be maintained as the duration of pain relief can vary widely. As this case study examined only three patients, further research is needed to corroborate these findings.
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    Ewing Sarcoma in a Young Adult: Survival following Disease Recurrence
    (2017-03-14) Basha, Riyaz; Cope-Yokoyama, Sandy; Bowman, Paul; Wise, Matthew
    Background: Ewing sarcoma is a rare, malignant cancer of bone and soft tissue that primarily affects adolescents and young adults. It is generally considered a treatable cancer. Nevertheless, when patients defy traditional survival indicators, namely age at diagnosis, relapse occurrence, and disease-free interval, their management, especially prognostically, is all the more challenging. Case Presentation: A 28-year-old Caucasian male presented to his physician with complaints of intermittent, severe chest pain and fever over 14 months. A right intrathoracic soft tissue mass was found on computed tomography (CT scan), and biopsy identified a small round blue cell tumor. The patient sought a 2nd opinion at Cook Children’s Medical Center, where bone scan and pathology confirmed an invasive Ewing sarcoma of the 5th rib. Ninety-five percent of cases with this diagnosis are made in patients who are between the ages of 4 and 25 years old. One week later, he began intensive chemotherapy at 2 week intervals (interval compression protocol) of 14 cycles, alternating Vincristine, Doxorubicin, and Cyclophosphamide with Ifosfamide and Etoposide. Ribs 4-6 were resected after completion of the 6th cycle, and tumor showed greater than 90% necrosis, indicating a dramatic response to chemotherapy. Following surgery, the patient completed 8 more cycles with excellent response and minimal complications. However, the patient presented again with recurrent chest pain 24 months later. Magnetic Resonance Imaging (MRI) and tissue biopsy confirmed tumor relapse along the 5th rib. Immediately, he began 12 cycles of Irinotecan & Temozolomide on an interval compression schedule. The tumor was successfully resected after the 4th cycle, and radiation to the site was added during the 9th and 10th cycles. Since his recurrence, the patient has shown no signs of relapse or metastasis during a follow-up period of 4 years and 10 months. This favorable outcome contrasts with the less than 20% survival rate anticipated in local recurrences between 1-2 years after complete remission. Conclusions: This case is unique in that the patient presented outside the expected age range, was diagnosed more than a year after the onset of symptoms, and relapsed within two years of complete remission. Yet, he survives several years later, free of disease and with minimal complications. This case challenges the current understanding of prognostic factors in Ewing sarcoma while emphasizing their influence in the proper care and management of patients.
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    Reduction Technique in a Rockwood Grade VI Acromioclavicular Separation
    (2017-03-14) Payne, Joshua; Webb, Brian; Schaefer, Travis
    Hypothesis and Purpose: Rockwood Grade VI acromioclavicular separations (AC) are extremely rare injuries and pose a challenge because the surgeon must reduce the clavicle to its appropriate anatomical position from the subcoracoid or subacromial space. After searching the literature, there is scant information of the appropriate reduction technique. This report aims to describe the reduction technique as well as the appropriate ligament reconstruction technique. Materials and Methods: A 35 year old female was involved in a rollover motor vehicle crash with ejection. The patient presented to the ED with multiple facial lacerations, closed nasal fracture, a closed displaced left scapula fracture, a closed right ulna fracture, and a Rockwood Grade VI AC separation. She presented with severe left shoulder pain as well as numbness over the medial aspect of her forearm. We present our case of distal clavicle excision, reduction, and reconstruction of the coracoclavicular ligaments. Results: The reduction was performed by placing a lobster claw clamp around the clavicular shaft to control the clavicle. A cobb elevator was used in a lever-like fashion to free the clavicle from the inferior coracoid. Soft tissue adhesion from the pectoralis minor and the anterior deltoid insertion were free with bovie electrocautery. A curette was used to sweep the pectoralis minor and the conjoined tendon off the clavicle as well as to cup the posterior inferior edge of the clavicle. Anterior and superior force was exerted on the clavicle until the clavicle was reduced into anatomic position. The distal clavicle was excised and the coracoclavicular ligament was reconstructed with a semitendinosis allograft. The patient's pain was improved post-operatively compared to pre-operatively and her pre-operative numbness was immediately resolved post-operatively. Conclusions: Rockwood grade VI AC separation is a rare injury without a clear reduction technique. We present a reduction and fixation technique that was successful in improving our patients pain and her pre-operative numbness.
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    Williams-Beuren Syndrome: A Case Report
    (2017-03-14) Reed, Tyler; Schulze, David; Wong, Long; Feezel, Ashlea
    Background: Williams-Beuren Syndrome (WBS), is a disorder caused by a hemizygous deletion of genes located on chromosome 7q11.23. Although, the deletion ranges in size from 1.55Mb to 1.85Mb, the elastin gene, ELN, is lost in all affected individuals. A wide variety of clinical manifestations have been seen among WBS patients including cardiovascular defects, cognitive impairment, and a distinctive facial features. The condition is usually diagnosed clinically at birth then confirmed with genetic testing. Due to the multisystem involvemnt of WBS, patient care is usually managed by multiple subspecialists. Accompanying psychosocial concerns frequently arise due to the low IQ and developmental delay seen in most WBS patients. In this report, we offer an overview of WBS and the complex management of 25-year old female with previously diagnosed WBS and multiple comorbid conditions. Purpose: In this report, we offer an overview of Williams-Beuren Syndrome and the complex management of 25-year old female with previously diagnosed WBS and multiple comorbid conditions. Methods: Chart review Results: The majority of the patient’s care was managed by her primary care physician including continuation of current treatment, hospital follow ups, medication management and involving social work as needed. Conclusions: This case demonstrates a primary care physician’s management of a complex genetic disorder due to limited access to subspecialists.
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    Acute Necrotizing Encephalopathy: Case Report
    (2017-03-14) Acosta, Fernando; Feezel, Ashlea
    Background: Acute Necrotizing Encephalopathy (ANE) is a rare disease that follows viral infections, most commonly influenza. Patients present with altered mental status and rapidly progress into a comatose state. Characteristic bilateral thalamic and brainstem lesions are seen on magnetic resonance imaging scans. Most early cases were isolated to East Asian countries such as Japan and Taiwan, with very few cases reported in the United States and Europe. Results/Conclusions: Recent studies of sporadic and familial cases of ANE have found a missense mutation in the Ran Binding Protein 2 (RANBP2) gene. We describe the clinical and radiological findings and treatment of a 14 year old female with recurrent RANBP2 positive ANE.
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    Simultaneous bilateral valgus slipped capital femoral epiphysis in an 11-year-old girl: a case report
    (2017-03-14) Bowman, W.; Mayfield, Matthew; Meiling, James
    Background: Slipped capital femoral epiphysis (SCFE) is a unique emergent hip disorder that afflicts children and teenagers. The most common presentation of SCFE is varus slip, a posterior and inferior displacement of the proximal femoral epiphysis on the femoral metaphysis; however, SCFE also presents less frequently as a valgus slip, a posterior and lateral displacement. Bilateral SCFE happens even less often than unilateral SCFE, so a case of simultaneous bilateral valgus SCFE is unique. Case Information: This case was identified and reviewed using electronic medical records and imaging. An 11-year-old normal weight girl presented with simultaneous bilateral valgus SCFE. She underwent bilateral in situ pinning to prevent further slippage, but post-surgery rapidly developed acute right hip pain caused by retained hardware that inadvertently entered the acetabulum and protruded into the inner wall of the pelvis. An additional operation took place where surgeons dislocated her right hip to remove the retained screw and revised pinnings of both hips. She faced numerous complications, including decreased sensation and numbness on the dorsum of her right foot and decreased peroneal distribution. Almost two years later she continues to experience progressive right hip pain, pinpointed to the tip of the greater trochanter on the lateral aspect of her right hip. The hardware irritation pain resolved after the removal of symptomatic hardware in the right hip. However, she still complains of severe radiating right hip pain on the anterior aspect of her hip, which displays significant acetabular dysplasia and a small cystic area on MRI. Conclusions: Valgus SCFE remains an infrequent presentation of this already uncommon musculoskeletal adolescent disorder, showing up in only 1-2% of all SCFE cases.According to the literature, simultaneous bilateral valgus SCFE in a female might be anticipated, but because of the infrequency of such cases the nature of both the presentation and demographics are still being discovered and understood. Usually, SCFE presents as a unilateral slip, although patients can have either sequential or simultaneous bilateral slips. In fact, most studies show that approximately 35% of SCFE cases present as bilateral slips. Some results have suggested that bilateral slips may be more common in valgus SCFE than in varus SCFE. More specifically, bilateral valgus SCFE might typically present simultaneously, rather than sequentially.
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    Thyrotoxicosis Presenting as Hypokalemic, Periodic Paralysis in a Previously Healthy 14-year-old Male
    (2017-03-14) De La Torre, Alejandro; Hamilton, Luke; Hamby, Tyler; Wilson, Don; Walls, Jenna
    Introduction: Hypokalemic periodic paralysis (HPP) is an unusual manifestation of hyperthyroidism. It is the most common cause of acquired HPP, and more common in males of Asian descent. For patients with HPP, it is also important to identify the underlying etiology to prevent recurring episodes of potentially life-threatening paralysis. Case Presentation: A previously healthy 14-year-old male was brought to the Emergency Department with acute, motor paralysis of both lower extremities. On physical examination, he was able to move all extremities but had a persistent, generalized weakness. The deep tendon reflexes were normal, and cranial nerves and sensation were intact. Vitals were within reference range except for elevated respiratory rate. In the Emergency Department, his potassium was noted to be very low at 1.5 mmol/L (ref: 3.5-5.0 mmol/L). BUN, creatinine, bilirubin, alkaline phosphatase, sodium, and chloride were all within normal range. A thyroid panel revealed a TSH of Discussion: HPP requires prompt treatment, since deaths from respiratory failure and arrhythmia have been reported1. The differential diagnoses of HPP have been discussed in other publications. The link between HPP and thyrotoxicosis is reported to be an increased β2-adrenergic stimulation resulting from the elevated levels of thyroid hormone. This leads to cellular potassium uptake in muscle, disrupting the polarity of the membrane and causing problems with proper muscle cell stimulation. Once the thyroid hormone levels are normalized, the hypokalemia should cease and episodes of paralysis averted. The condition, when present, often manifests prior to other more common symptoms such of thyrotoxicosis. Conclusions: Our case illustrates an unusual, but potentially life-threatening manifestation of thyrotoxicosis. Proper diagnosis is critical to successful long-term management. It is important to measure thyroid function studies (thyroid stimulating hormone and free T4) in all patients who present with unexplained periodic paralysis to avoid misdiagnosis.
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    Metastatic Spindle Epithelial Tumor with Thymus Like Differentiation in a 10 year old male
    (2017-03-14) Bowman, Paul; Lalich, Missy
    Purpose: This case study highlights a rare experience of late recurrent pulmonary metastatic Spindle Epithelial Tumor with Thymus-Like Differentiation (SETTLE) following an initial diagnosis of SETTLE of the thyroid. The case illustrates the clinical features of metastatic SETTLE and emphasizes the importance of long term patient follow up after a diagnosis of childhood cancer. Methods: Chart and literature reviews were performed with an emphasis on clinical presentation and treatment protocol for metastatic SETTLE. Records were obtained of a 10-year-old male who presented to Cook Children’s Medical Center with multiple bilateral pulmonary nodules on x-ray and a history significant for a SETTLE tumor of the thyroid 5 years prior. Due to situational adversities, the patient was lost to follow up and was not seen by an oncologist following his initial diagnosis with SETTLE. Results: Cook Children’s Medical Center Oncologist reviewed the radiologic reports and proceeded with core needle biopsy of the pulmonary masses to identify an etiology. The pulmonary biopsies were compared to the patient’s initial thyroid tumor specimen and a diagnosis of metastatic SETTLE was established. Due to the rare nature of this disease, no formal treatment protocols currently exist for metastatic SETTLE. Cook Oncologist decided to proceed with a chemotherapy protocol consistent with literature recommendations for metastatic pulmonary SETTLE. Conclusions: The present case is an example of a rare tumor that has the potential to demonstrate late onset metastatic disease. With little known about the disease course, subsequent follow-up with an oncologist after diagnosis is of the utmost importance to help monitor for tumor recurrence and metastatic disease. As demonstrated by this case, failure to identify secondary metastatic disease at an earlier stage resulted in multiple, non-resectable pulmonary tumors. This case further highlights the importance of patient enrollment in childhood cancer survivorship programs, which can help identify late onset metastatic cancer and secondary malignancies.
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    Role of Perimortem Testing and Autopsy in Children with Unexplained Illnesses
    (2017-03-14) Margraf, Linda; Soler-Alfonso, Claudia; Hamby, Tyler; Hamilton, Luke; Wilson, Don; Patel, Reema
    Introduction: Genetic disorders that result in death pose a difficult challenge, as the cause of death often remains unknown. The family is left with unanswered questions and other affected children or family members may be as risk. Case Presentation: An 8-year-old male experienced a series of unexplained illnesses over 2 year period prior to his death. During this time he had 6 episodes of acute illness requiring hospital care, each characterized by severe headache, emesis, and dehydration. During his last episode, rapid deterioration in his condition prompted transfer to the Cook Children’s Medical Center ICU. A head CT showed bilateral cerebral edema with herniation. His neurologic exam met established criteria for brain death and, after consultation with the family, artificial life-support was discontinued and the child expired. The parents consented to an autopsy. Generalized hyperpigmentation was noted at autopsy. Gross and anatomic examination of the autopsy specimens showed bilateral abnormalities of the adrenal glands, suggestive of adrenoleukodystrophy (ALD). Based upon the autopsy findings, the limited blood sample obtained prior to death was sent for targeted DNA mutation analysis. The study confirmed an ABCD1 variant previously reported in ALD. Discussion: ALD, a rare, X-linked disorder, is characterized by elevated levels of very long chain fatty acids (VLCFA) in the brain and adrenal cortex. Males are more often and more severely affected than females. Accumulation of VLCFA results in loss of myelin and progressive dysfunction of the adrenal gland. Primary adrenal insufficiency (AI) may manifest as nausea, vomiting, hyperkalemia, hyponatremia, and episodes of dehydration. AI can be the only symptom of ALD. ALD is typically debilitating or fatal within 2-5 years of onset. Other symptoms of ALD include deafness, blindness, muscle wasting, and dementia. As an X-linked disorder, establishing the correct diagnosis is critical for proper genetic counselling of potentially affected family members. Establishing the correct diagnosis can alleviate feelings of guilt and lack of closure often experienced by family members. Genetic testing avoids further misdiagnosis and allows discussions of treatment options of affected family members. In this case, the autopsy allowed family members to receive genetic testing. Autopsies are a source of clinically relevant information that help assess the accuracy of pre-mortem diagnosis. Nationally autopsy rates have been declining. The cause of decline is multifactorial, with age and cause of death being significant, although approximately one-third of autopsies lead to a new diagnosis. An informative autopsy can help determine the test most likely to provide a correct diagnosis, utilizing limited samples obtained prior to or shortly after death. This approach often avoids unnecessary testing and expense. Barriers to autopsy include physicians’ reluctance to request an autopsy and lack of information provided to family members. Conclusions: This case illustrates the important role of autopsy in helping direct additional postmortem testing to confirm the cause of death. A protocol utilizing autopsy data to help inform perimortem genetic testing can help avoid the consequences of an undiagnosed genetic disorder. Physicians should consider the use of autopsy in helping to determine an accurate cause of death, provide closure, and, as in this case, facilitate genetic counselling of family members.
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    A comparison of varus and valgus slipped capital femoral epiphysis: a case series
    (2017-03-14) Bowman, W.; Mayfield, Matthew; Meiling, James
    Introduction: Slipped capital femoral epiphysis (SCFE) is an infrequent adolescent hip disorder. The most common presentation of SCFE is varus slip, a posterior and inferior displacement of the proximal femoral epiphysis on the femoral metaphysis; however, SCFE also presents less frequently as a valgus slip, a posterior and lateral displacement. SCFE is often first seen by a family physician before prompt referral to an orthopedist. The family physician’s immediate recognition and diagnosis of this emergent condition is crucial. Methods: These cases were identified and reviewed using electronic medical records and imaging. Results: Case 1 is an 11-year-old obese boy with pain for several months due to left unilateral varus SCFE. Surgical management consisted of situ pinning and prophylactic pinning in the contralateral right hip. Case 2 is a 12-year-old obese boy with acute traumatic pain who had right unilateral varus SCFE, was managed with in situ pinning, and has suspected pre-slippage of the contralateral left hip. Case 3 is an 11-year-old non-obese girl with acute pain who had simultaneous bilateral valgus SCFE, underwent in situ pinning twice because of hardware complications, and later required removal of previously placed hardware. Conclusions: Varus SCFE tends to occur more often in males and valgus slips tend to occur more in females. Body mass index (BMI) seems to show little indication on whether the slip will be varus or valgus. Varus slips commonly present unilaterally with the potential to progress to sequential bilateral slips, while valgus slips have a greater probability of presenting as simultaneous bilateral slips.
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    Gynecomastia and Partial Androgen Insensitivity Syndrome (PAIS)
    (2017-03-14) Thornton, Paul; Hamilton, Luke; Ahmad, Zahid; Wilson, Don; Ahn, Sam
    Purpose: Partial androgen insensitivity syndrome (PAIS) is a rare genetic disorder, with a prevalence of 1:130,000. Caused by a loss-of-function mutation in the androgen receptor (AR) gene located on the X-chromosome, PAIS is clinically characterized by hypospadias, gynecomastia, and infertility due to azoospermia.Phenotypic manifestations often overlap with other genetic disorders. Therefore, genetic screening can not only help provide a definitive diagnosis, but can also assure accurate genetic counseling – especially for female carriers. Case Presentation: A 13-year-old male Caucasian was referred for gynecomastia. His past medical history was unremarkable, except for attention deficit hyperactivity disorder. Family history included cancer, cardiovascular disease, and obesity. On physical exam, his penis was underdeveloped while his pubic hair was Tanner 3. He had large well-formed breasts similar to Tanner 4 in females. His testicles were 6 mls. Laboratory testing revealed elevated serum testosterone of 1610 ng/dL, LH 4.75 mIU/mL, FSH 0.57 mIU/mL and estradiol 17 pg/mL. His initial lab results were consistent with (partial) androgen insensitivity syndrome. Following 10 mg/d of tamoxifen, his breast tissue dissappeared completely and the drug was discontinued. Within a year, significant breast hypertrophy was again noted and tamoxifen was resumed. With further treatment, his gynecomastia once again resolved. F-up lab results showed continued elevation of serum testosterone of 1678 ng/dL with LH levels of 20.24 mIU/mL, and estradiol of 73 pg/m. FSH levels remained normal (2.66 mIU/mL). Genetic testing confirmed a known mutation for PAIS. The patient was advised to continue tamoxifen. Whole exome sequencing was completed (illumina HiSeq 2000, McDermott Center Sequencing Core at UT Southwestern Medical Center, Dallas, TX) from DNA isolated from peripheral blood. The patient harbored a missense mutation (A700D) in the AR gene. Sanger sequencing was completed to confirm the mutation. His mother was heterozygous for the mutation while his father and unaffected brother lacked the mutation. Summary: Gynecomastia, the proliferation of male breast tissue, may occur as a consequence of physiologic or pathologic causes. Although physiologic gynecomastia commonly associated with male puberty resolves spontaneously, pathologic causes often result in persistent breast enlargement, accompanied by tenderness and, in some, galactorrhea. Further diagnostic testing is recommended in those with persistent, unexplained gynecomastia. Current treatment options for PAIS are limited to symptomatic management. Genetic and psychological counseling, and hormone replacement therapy should be proved.4,5 Affected males with hypospadias may benefit from assistance with sex assignment, genitoplasty and gonadectomy. Conclusions: Overall, PAIS is often overlooked due its rarity and may be confused with other genetic disorders with similar clinical presentations. As such, PAIS should be included in differential diagnosis of children who present with abnormal secondary sexual organ development or ambiguous genitalia. Individuals with PAIS should be managed by a multidisciplinary team to assure the best outcomes.