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Clinical Management of Disorders of Sex Development

Teaser: 

Danielle Wang BA,1 Leanna W. Mah MD,2 Jennifer H. Yang MD,3

1,2University of California, Davis, Department of Urology, Sacramento, CA,
3Associate Professor, University of California, Davis, Department of Urology and Division of Pediatric Urology, Sacramento, CA.

CLINICAL TOOLS

Abstract: Disorders of sex development (DSD) is an umbrella term for congenital conditions in which anatomic, gonadal, or chromosomal sex is atypical. DSD is found in 7.5% of all births defects and 1 in 5,000 babies born worldwide have significant ambiguous genitalia. Best practices involve multidisciplinary teams, informed consent and shared decision-making with the patient and family. As a group, DSD patients are rare and therefore clinically challenging. Primary care providers, family medicine physicians, and pediatricians are the foundation for patients' medical care and therefore play a key role in the initial diagnosis, guidance, coordination of care, and long-term management.
Key Words:Disorders of sex development, intersex, gender identity, sex differentiation, ambiguous genitalia.

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The most common causes of DSD are congenital adrenal hyperplasia (CAH) and mixed gonadal dysgenesis, constituting approximately half of all DSD cases discovered in newborns.
Initial evaluation of DSD should include a thorough history, physical exam that includes assessment of genital anatomy, evaluation of sex chromosomes using karyotype and fluorescence in situ hybridization, and assessment of internal organs by abdominopelvic ultrasonography.
The three classifications within DSD are 46, XX DSD (disorders of gonadal or ovarian development and androgen excess), 46, XY DSD (disorders of gonadal or testicular development and impaired androgen synthesis or action), and chromosomal DSD (numeric sex chromosome anomalies).
Overlooked DSD diagnosis can have the fatal consequence of adrenal crisis due to CAH; phenotypic males with CAH do not present with ambiguous genitalia and therefore adrenal crisis may go undetected at birth.
Physical exam findings that should prompt a DSD workup in neonates include bilateral non-palpable testes, hypospadias in combination with a unilateral undescended testis or non-palpable testes, clitoral hypertrophy, foreshortened vulva with a single urogenital tract opening, and an inguinal hernia with a palpable gonad in a phenotypic female infant.
Initiating the connection to other patients or families and recommending support groups can alleviate isolation, normalize a DSD diagnosis, and encourage positive adaptation.
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Related Terms: Men’s Health, Women’s Health, Disorders of sex development, intersex, gender identity, sex differentiation, ambiguous genitalia

A Spinal Control Approach to Back Pain for the Primary Care Provider

Teaser: 

Kristen H. Beange BASc,1 Tianna H. Beharriell BHK,2 Eugene K. Wai MD, MSc, FRCSC,3 Ryan B. Graham MSc, PhD,4

1School of Human Kinetics, Faculty of Health Sciences, University of Ottawa, Ottawa, Ontario, Canada.
2School of Human Kinetics, Faculty of Health Sciences, University of Ottawa, Ottawa, Ontario, Canada.
3Ottawa Hospital Research Institute, Ottawa, Ontario, Canada. Department of Surgery, Faculty of Medicine, University of Ottawa, Ottawa, Ontario, Canada.
4School of Human Kinetics, Faculty of Health Sciences, University of Ottawa, Ottawa, Ontario, Canada.

CLINICAL TOOLS

Abstract: Impaired neuromuscular control of the spine is widely recognized as an important factor in the development of low back pain (LBP). In this review, we summarize contemporary approaches for the assessment of spinal control variables such as stability, stiffness, coordination, and kinematics as well as the most current definitions within the LBP community. We discuss how these assessments can be incorporated into primary clinical care to improve diagnosis and treatment effectiveness.
Key Words: spinal control, low back pain, kinematics, stability, wearables.

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1. Classification of low back pain (LBP) should continue to be refined to prognosticate and guide treatment.
2. The spinal control model is based on the interaction of the passive (osteoligamentous), active (muscular), and neural feedback subsystems.
3. The spinal control model can be used as a basis to further refine classification and treatment of LBP. Technological advances allows for the development of better kinematic assessments of these subsystems and possible incorporation into clinical care.
1. Identification of specific subgroups of LBP and directing specific treatments has been identified as a future for research and management.
2. The Clinically Organized Relevant Exam (CORE) Back Tool incorporates the identification of patterns of pain based on back or leg dominant, and flexion or extension mediated pain.
3. Spinal fusion for treatment of back dominant LBP (without spondylolisthesis) is not supported by clinical practice guidelines.
4. Within the spinal control model, treatment of LBP should focus on the identification of deficiency in the active (muscular) and neural feedback subsystems and on treatment with spinal muscular strengthening and motor control exercises.
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Related Terms: Back Health, spinal control, low back pain, kinematics, stability, wearables

Dementia: Hearing Loss May Contribute to Symptoms

Teaser: 

Michael Gordon, MD, MSc, FRCPC,

Medical Program Director, Palliative Care, Baycrest Geriatric Health Care System, Professor of Medicine, University of Toronto, Toronto, ON.

CLINICAL TOOLS

Abstract: Dementia and hearing loss are both prevalent in older people. Until relatively recently there was little appreciation of their possible interconnection in terms of cause, effect and relationship between the two conditions other than perhaps the dictum—”if you can’t hear it you can not remember it”. It has now become apparent that there is a more defined relationship in terms of possible causality or at least partial patho-physiological association which makes it more important to define hearing loss early on and address it as part of the strategy to decrease the risk of dementia.
Key Words: Alzheimer’s disease, hearing loss, symptoms
Do not discount hearing loss as part of assessment of the range of cognitive impairment and dementia.
Look for appropriate strategies to address hearing loss in elders with early cognitive impairment who may shun standard hearings aids—use the simpler Pocketalker (R) which may fulfil the important goal of enhancing hearing and communication.
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Related Terms: Dementia, Alzheimer, hearing loss

Current Management of Symptomatic Lumbar Disc Herniation

Teaser: 

Parham Rasoulinejad, MD, FRCSC, MSc, 1 Jennifer C. Urquhart, PhD,2 Christopher S. Bailey, MD, FRCSC, MSc, 2

1Orthopaedic Surgeon, Division of Orthopaedic Surgery, London Health Sciences Center, and Assistant Professor, Dept. of Surgery, University of Western Ontario, London, ON.
2Research Associate, Division of Orthopaedic Surgery, London Health Sciences Center, and Lawson Health Research Institute, London, ON.
3Orthopaedic Surgeon, Division of Orthopaedic Surgery, London Health Sciences Center, and Associate Professor, Dept. of Surgery, University of Western Ontario, London, ON.

CLINICAL TOOLS

Abstract: Lumbar disc herniation is a common cause of low back pain and radiculopathy (sciatica). Diagnosis is initially made based on history and physical examination and ruling out red flags, particularly surgical emergencies such as Cauda Equina Syndrome. A trial of conservative treatment consisting of physical rehabilitation and oral medication is usually successful for back dominant pain. When persistent radiculopathy indicates lumbar discectomy the diagnosis must be confirmed by imaging but, due to very high rates of asymptomatic disc herniation, imaging cannot replace clinical diagnosis. For disabling leg dominant pain discectomy results in faster recovery but has a similar long-term outcomes compared to conservative treatment.
Key Words: lumbar disc herniation, lower back pain, sciatica, radiculopathy.

Members of the College of Family Physicians of Canada may claim MAINPRO-M2 Credits for this unaccredited educational program.

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Lumbar disc herniation is common and frequently asymptomatic.
Lumbar disc herniation may result in back pain. Much less frequently, when the adjacent nerve root is involved it can cause radiculopathy (sciatica).
Under most circumstances, the symptoms of lumbar disc herniation can be managed conservatively with physical rehabilitation and oral medications.
Red flags and surgical emergencies such as Cauda Equina Syndrome must be considered and should lead to urgent imaging and surgical referral.
Imaging, particularly MRI, has high rates of false positives and should only be used to confirm a diagnosis made based on history and physical examination.
For disabling persistent radiculopathy with good radiological correlation, surgical intervention in the form of a discectomy can be considered.
Lumbar disc herniation (LDH) is common and in most cases asymptomatic. Findings on MRI of lumbar disc herniation are not predictive of future back related disability. MRI findings should be interpreted along with history and physical exam findings to determine the appropriate diagnosis.
LDH can result in back pain and, when the adjacent nerve root is involved, radicular leg pain. The first line of treatment for back dominant pain should be education, lifestyle modification, mechanical therapy and oral medications in the form of acetaminophen, non-steroidal anti-inflammatories.
Radicular leg dominant pain may require opioids and/or epidural corticosteroid injections. The majority of patients will improve without further intervention.
For persistent symptoms of sciatica, surgical intervention can be considered. Lumbar discectomy is the most common procedure performed and has good to excellent outcomes.
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Related Terms: Back Health, Lumbar disc herniation, low back pain, sciatica, radiculopathy

Sudden Sensorineural Hearing Loss—A Medical Emergency

Teaser: 

Dr. Pradeep Shenoy, MD, FRCS, FACS, DLO,1 Stéphanie Bellemare-Gagnon, MPA, Aud (C)2

1ENT & Neck Surgeon, Campbellton Regional Hospital, Campbellton, New Brunswick, Canada.
2Entendre Plus Hearing, Hearing and Balance Clinics.

CLINICAL TOOLS

Abstract: Sudden hearing loss—usually unilateral and rarely bilateral—can be associated with tinnitus and vertigo. In most cases it is idiopathic, although various explanations such as infective, vascular, and immune causes have been postulated. We have reviewed the literature and what follows is a survey of current research and suggested treatments for sudden hearing loss.
Key Words: sudden sensorineural hearing loss (SSNHL), tinnitus, pure tone audiogram (PTA), acoustic brainstem response audiometry (ABRA), viral neuritis, vascular insufficiency, oral steroids, intratympanic steroids, antiviral treatment, hyperbaric oxygen therapy (HBOT), MRI brain, acoustic neuroma.
All patients with SSNHL should be assessed by taking a thorough history and performing a complete examination to identify any specific disease.
PTA should be performed in all patients.
Targeted laboratory investigations should be performed after the initial assessment.
All patients should have an MRI of the brain if a CT SCAN of the brain is contraindicated; ABR testing should also be considered.
If a specific cause for SSNHL is found, the patient should be managed accordingly.
If SSNHL is idiopathic in nature, patients may be offered a course of oral steroids.
If oral steroids are contraindicated, IT steroid therapy could be considered as a primary or salvage therapy.
Use of antivirals, HBOT, vasodilators, and vasoactive agents are not currently supported by the research.
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Related Terms: Otolaryngology, sudden sensorineural hearing loss (SSNHL), tinnitus, pure tone audiogram (PTA), acoustic brainstem response audiometry (ABRA), viral neuritis, vascular insufficiency, oral steroids, intratympanic steroids, antiviral treatment, hyperbaric oxygen therapy (HBOT), MRI brain, acoustic neuroma

Undescended Testis

Teaser: 

Yvonne Y. Chan, MD, 1 Stanley A. Yap, MD, 1Jennifer H. Yang, MD1

1University of California Davis, Department of Urology, Sacramento, CA.

CLINICAL TOOLS

Abstract: Undescended testis is the most common genitourinary anomaly in boys and is found in 2-4% of those born full term and 20-30% of those born premature. Spontaneous descent occurs in 50-70% of cases. Physical exam is critical and sufficient in the diagnosis and characterization of testicular location. As such, imaging is not necessary prior to referral to pediatric urology as it will not affect management. Testicular maldescent impairs spermatogenesis and increases risk for testicular germ cell tumors, so timely diagnosis and intervention are key.
Key Words:undescended testis, cryptorchidism, orchiopexy.

Members of the College of Family Physicians of Canada may claim MAINPRO-M2 Credits for this unaccredited educational program.

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Pre-test CME Quiz Post-test CME Quiz
Undescended testis affects spermatogenesis and increases risk for testicular cancer and infertility.
Initiate workup for disorders of sexual development in cases of bilateral, undescended, and nonpalpable testes.
For cases of congenital undescended testis, refer to pediatric urology if the testis remains undescended by 6 months of age (corrected for gestational age).
Imaging is not necessary prior to referral to pediatric urology.
Patients with bilateral undescended and nonpalpable testicles require DSD workup.
Physical exam is sufficient for determining the location of an undescended testis, and ultrasound is not necessary prior to referral to pediatric urology.
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Related Terms: Men’s Health, undescended testis, cryptorchidism, orchiopexy

Referral Criteria for Non-Emergent Spinal Symptoms in the Neck and Low Back: A Survey of Canadian Spine Surgeons

Teaser: 

Yoga Raja Rampersaud, MD, FRCSC,1 Dr. Hamilton Hall, MD, FRCSC,2

1Associate Professor Department of Surgery, University of Toronto, Divisions of Orthopaedic and Neurosurgery University Health Network Medical Director, Back and Neck Specialty Program, Altum Health, Past President Canadian Spine Society.
2is a Professor in the Department of Surgery at the University of Toronto. He is the Medical Director, CBI Health Group and Executive Director of the Canadian Spine Society in Toronto, Ontario.

CLINICAL TOOLS

Abstract: The majority of the patients referred for surgical consultation are not candidates for surgery. Appropriate operative candidates endure unnecessary and potentially detrimental delays in obtaining their surgery while the rest waste time waiting to be told that surgery is not the answer. The Canadian Spine Society surveyed its membership to establish a set of practical surgical referral recommendations for non-emergent spinal problems. The results support referrals of patients with leg or arm dominant pain but, in the absence of a significant structural abnormality, discourage referring patients with neck or back dominant symptoms.
Key Words: spine surgery, indications, referral, clinical presentations, non-emergent.

Members of the College of Family Physicians of Canada may claim MAINPRO-M2 Credits for this unaccredited educational program.

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There is no universally acceptable ideal candidate, absolute indication or unqualified contraindication for elective spinal surgery.
Referral is recommended most often for patients who have constant arm or leg dominant pain.
Patients who have untreated neck or back dominant pain are not appropriate surgical referrals.
Surgeons insistence on an image or refusal to see a suitable patient who rejects surgery reflect the excessive demand on their time, which can be relieved with proper referral.
The recommendation for referral is highest when the patient has had aappropriate non-operative treatment: well supervised physical therapy, suitable medication, effective education and successful lifestyle modification.
Spine related arm and leg dominant pain are usually the result of specific nerve root pathologies and therefore are more likely amenable to surgical intervention than back or neck pain which are generally multifactorial.
Patients with disabling or progressive neurological deficits should be referred early; patients with little or no pain and with no functional limitation related to the neurological deficit are not recommended for referral.
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Related Terms: Back Health, spine surgery, indications, referral, clinical presentation, non-emergent

A Case of a Large Sublingual Dermoid Removed Successfully Using a Sublingual Approach

Teaser: 

Dr. Pradeep Shenoy, MD, FRCS, FACS, DLO,1
Dr. Farah Tabassum, MD, FRCPC, FABP2

1ENT & Neck Surgeon, Campbellton Regional Hospital, Campbellton, New Brunswick, Canada.
2Pathologist, Campbellton Regional Hospital, Campbellton, New Brunswick, Canada.

CLINICAL TOOLS

Abstract:Sublingual dermoid cysts are rare lesions in the oral cavity. Common oral lesions include: ranula; benign mucosal swelling; and sublingual salivary gland tumours. Uncommon types of lesions include: thyroglossal cysts, pilomatrixomas,12 pilomatrix carcinomas, and arteriovenous malformations.
The etiology, diagnostic problems, radiological findings, various treatment approaches, and histopathological findings are described in the following case study, which includes a literature review.
Key Words: epidermoid cyst, submental swelling, sublingual swelling, sialo adenitis, thyroglossal cyst, pilomatrixoma.
Sublingual dermoid cysts are asymptomatic unless they are big causing pressure symptoms causing sialoadnitis, difficulty in swallowing, choking or pain while moving the tongue.
Good examination and CT scan of the neck helps to plan for the surgery.
Once removed completely the recurrence is very rare.
Dermoid cyst in the oral cavity are rare entity depending on the histological picutres that are classified into dermoid, epidermoid, and teratomas.
Complete excision through intra oral and external approach is done, depending on its site in relation with geniohyoid muscles.
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Related Terms: Otolaryngology, epidermoid cyst, submental swelling, sublingual swelling, sialo adenitis, thyroglossal cyst, pilomatrixoma

Surgical Management of Erectile Dysfunction

Teaser: 

Justin J. Badal, MD,1 Genevieve Sweet, MD, 2Shelley Godley, MD,3Stanley A. Yap, MD,4Dana Nanigian, MD, 5

1Department of Urology, University of California Davis, Sacramento, California.
2Department of Urology, Sutter Medical Group, Roseville, California.
3Department of Urology, Veterans Affairs Northern California Health Care System, Sacramento, California.
4Department of Urology, University of California Davis, Sacramento, California and Department of Urology, Veterans Affairs Northern California Health Care System, Sacramento, California.
5Chief of Urology, Department of Urology, Veterans Affairs Northern California Health Care System, Sacramento, California.

CLINICAL TOOLS

Abstract: Erectile dysfunction (ED) is one of the most common sexual disorders affecting men. Discussion regarding erectile function, diagnosis, and management of the disease typically begins at the primary care level. A broad understanding of the basic causative factors and initial treatment regimens gives primary care physicians the ability to treat ED. An enhanced understanding of surgical options allows for referrals to be made to urologists for advanced surgical treatment of ED in patients who have failed medical therapies. Initial diagnosis and continued workup can be performed prior to consultation with a surgical specialist. Detailed here are different causes of ED as well as their respective studies to enhance initial surgical evaluation.
Key Words:erectile dysfunction, diagnosis, management, treatment.

Members of the College of Family Physicians of Canada may claim MAINPRO-M2 Credits for this unaccredited educational program.

www.cfpc.ca/Mainpro_M2

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Pre-test CME Quiz Post-test CME Quiz
A thorough discussion regarding the irreversibility of penile implants is strongly recommended with the patient before proceeding.
Inflatable penile prosthetics avoid the effect of the constant erection created by malleable implants.
Partner satisfaction is highest with the inflatable penile prosthesis.
The inflatable penile prosthesis is the most preferred among men.
Adverse events/complications associated with SNM use include: pain at the implantation site, lead migration, wound-related complications, bowel dysfunction, infection, and generator problems.
Postoperative outcomes can be improved with detailed counseling in regards to modifiable risk factors, such as achieving appropriate glycemic control.
Candidates for revascularization therapy should be carefully selected, with those who are younger and have sustained pelvic trauma having the best outcomes.
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Related Terms: Men’s Health, Women’s Health, erectile dysfunction, diagnosis, management, treatment

Connecting the Spots: Hyperpigmented Lesions in Children

Teaser: 

Lisa M. Flegel,1 Joseph M. Lam, MD, FRCSC,2

1Medical Degree Undergraduate Program, Northern Medical Program, University of British Columbia, BC.
2Clinical Assistant Professor, Department of Pediatrics and Dermatology, University of British Columbia, BC.

CLINICAL TOOLS

Abstract: Hyperpigmented lesions are common in the pediatric population and identifying their etiologies can be challenging for physicians. Patients and caregivers may worry that hyperpigmented lesions are dangerous, associated with an internal illness or that they may lead to skin cancers. Having a better understanding of the causes and natural histories of these lesions may help to guide management and alleviate worry. This review article will provide an overview of select common and uncommon causes of hyperpigmented skin lesions in children.
Key Words: hyperpigmentation, pediatric.
1. Most hyperpigmented lesions in children do not require treatment aside from for cosmesis.
2. Features of malignant melanoma in children include: non-pigmented, uniform color, variable diameter, nodular lesions, and occurring de novo.
3. Parents and children should be warned that melanocytic nevi will grow as their child grows, but growth should be proportionate.
4. The risk of melanocytic nevi becoming malignant melanoma in children is very small.
In children with numerous melanocytic nevi, a good rule of thumb is to look for the 'ugly duckling' mole.
To track lesions over time, parents can develop a routine of taking a picture each year on the child's birthday.
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Related Terms: Dermatology, hyperpigmentation, pediatric