Linda S. Nield, MD

 During circumcision, a newborn is noted to have continuous dribbling of urine from his meatus and stool from his anus. After several minutes of observation, the urinary stream appears weak and remains a constant trickle. The baby boy was born at term via an uncomplicated spontaneous vaginal delivery. He was treated in the neonatal ICU for hypoglycemia. A radiograph of his pelvis is shown.

 What maternal disorder can lead to the abnormality noted in the radiograph below? 

•Thalidomide exposure
 •Diabetes mellitus
 •Lupus
 •Marfan syndrome


 The infant’s radiograph revealed absence of a sacrum (A). A radiograph of a normal sacrum is shown for comparison (B). Caudal regression, or sacral agenesis, refers to a collection of congenital abnormalities that may involve the lower spine and spinal cord, lower extremities, urinary tract, and GI tract. Infants with caudal regression syndrome have urinary and fecal incontinence and decreased lower limb movement. Patients may require lifelong management of associated elimination disorders and surgical intervention for neurological deficits or vertebral anomalies.

The exact cause of the anomalies is unknown; however, 15% to 25% of cases are associated with maternal type 1 diabetes mellitus.

 Caudal regression occurs 200 times more frequently in the offspring of diabetic mothers than in other infants.3 In extreme cases of caudal regression, sirenomelia (mermaid syndrome) may occur, although this is less often associated with type 1 diabetes mellitus.

 Environmental factors may also play a role.

Maternal thalidomide exposure is associated with limb abnormalities and major organ defects, whereas maternal lupus is associated with intrauterine growth retardation, preterm delivery, and immune-mediated heart block in the neonate. Marfan syndrome is an inherited disorder characterized by ocular, skeletal, and cardiovascular malformations.

Case and images courtesy of Stacey M. Humphreys, MD, and Linda S. Nield, MD, of West Virginia University School of Medicine in Morgantown.


1. Kahilogullari G, Tuna H, Aydin Z, et al. Caudal regression syndrome diagnosed after the childhood period: a case report. 

. 2005;4:16-17. 
2. Al Kaissi A, Klaushofer K, Grill F. Caudal regression syndrome and popliteal webbing in connection with maternal diabetes mellitus: a case report and literature review. 

 2008;1:407.
3. Mills JL. Malformations in infants of diabetic mothers. 

. 1982;25: 385-394.
4. Zaw W, Stone DG. Caudal regression syndrome in twin pregnancy with type II diabetes. 

. 2002;22:171-174.
5. Hentschel J, Stierkorb E, Schneider G, et al. Caudal regression sequence: vascular origin? 

Articles

During circumcision, a newborn is noted to have continuous dribbling of urine from his meatus and stool from his anus. After several minutes of observation, the urinary stream appears weak and remains a constant trickle. The baby boy was born at term via an uncomplicated spontaneous vaginal delivery.

Newborn With Urinary Dysfunction

A 14-year-old girl had fatigue, a slight sore throat, and low-grade fever for a week. The mother was concerned that she had “mono” like her older sister who had the same symptoms and in whom the illness was diagnosed 2 months earlier. The patient was described by her mother as a somewhat “anxious” child. She was not taking any medications. She denied weight loss, night sweats, rash, myalgia, and arthralgia.

The patient was afebrile and appeared well. Significant findings included a mildly erythematous posterior pharynx with no exudates, 0.5-cm anterior cervical lymphadenopathy bilaterally, and a mid to left upper quadrant abdominal mass. The mass, which was slightly firm and relatively smooth, with no distinct edges, was presumed to be splenomegaly. Remaining examination findings were normal.


Figure 1 – Axial CT scan shows a large, bilobed, heterogeneous mass within the stomach. The mass has a laminated appearance and is outlined by air bubbles.

Mononucleosis from possible exposure was the presumptive diagnosis; however, results of a rapid heterophile antibody test were negative. Liver function panel, complete blood cell count, erythrocyte sedimentation rate, and serum uric acid levels were all within the normal range. An abdominal ultrasonogram revealed an epigastric mass and normal spleen. Abdominal CT scan findings were indicative of a large gastric bezoar (

), which was promptly removed by laparotomy, without complication.

Figure 2 – Coronal CT scan shows the large, heterogeneous, laminated mass filling the gastric lumen from the fundus to the antrum.

On further questioning, the child revealed that when she was 10 years old, she had a habit of pulling out and eating her hair. She stated that “my fifth-grade teacher was mean and made me nervous,” but she denied eating hair for the past 4 years. She also denied any GI complaints, such as vomiting, constipation, bloating, or hematochezia. The mother reported no family history of mental illness.

Trichotillomania is characterized by the recurrent pulling out of one's hair as a means to relieve tension; it is considered an impulse-control disorder.

 The underlying cause is unknown, but it is theorized to involve genetic, environmental, and psychiatric factors.

 This disorder is commonly associated with the eating of pulled hair (trichophagia).

 In general, the eating of nonfood substances, also known as pica, can be associated with cognitive and behavioral disorders, iron or zinc deficiency, child neglect, celiac disease, and pregnancy.

 The formation of a trichobezoar is a possible complication of trichophagia.

 The finding of a mass in this area of the abdomen in an adolescent girl generates a small, and mostly ominous, list of differential diagnoses once chronic or severe constipation is ruled out. These include but are not limited to neuroblastoma, sarcoma, gastric carcinoma,

 In this patient, the normal physical examination findings and laboratory studies, the history of trichophagia, and the characteristic appearance of a trichobezoar on the CT scan essentially ruled out a primary gastric tumor as the cause.

 The patient with trichotillomania and trichophagia may not admit to having any symptoms. A child with trichotillomania may have alopecia, which is a common finding in patients who have been pulling their hair for a long time. If alopecia is present, it appears as scattered bald patches and areas of scant broken hairs.

 Some or all of the patient’s eyelashes may also be missing. This girl had no signs of alopecia.

This patient's presenting symptoms probably represented an acute viral syndrome, and the abdominal mass was an incidental finding that led to the discovery of the trichobezoar. An asymptomatic, mobile, epigastric abdominal mass can signal the presence of a trichobezoar. Abdominal pain, anorexia, vomiting, anemia, pancreatitis, hypoalbuminemia, and jaundice may be present.

 Reported complications of trichobezoars include intestinal obstruction and perforation, gastric ulceration, and intussusception.

 Compression of the superior mesenteric artery secondary to a trichobezoar has also been reported.

 Management of trichobezoars consists of prompt surgical removal. Definitive treatment of patients with a trichobezoar involves the recognition and management of any underlying psychiatric disorders with the help of expert consultation. This case emphasizes the importance of obtaining a social and behavioral history in an adolescent. However, clinicians should be aware that even after thorough questioning, patients may not readily admit to trichotillomania and trichophagia. In addition, parents may not realize the relevance of the past hair-eating habit with the current medical condition.

Diagnostic and Statistical Manual of Mental Disorders

. 4th ed. Washington, DC: American Psychiatric Association: 1994.

2. Duke DC, Keeley ML, Geffken GR, Storch EA. Trichotillomania: a current review. 

3. Grant JE, Odlaug BL. Clinical characteristics of trichotillomania with trichophagia. 

4. Nanda S, Nield LS. Boy with extraordinarily high blood lead levels. 

5. Zhuge Y, Cheung MC, Yang R, et al. Pediatric intestinal foregut and small bowel solid tumors: a review of 105 cases. 

6. Miettinen M, Makhlouf HR, Sobin LH, Lasota J. Plexiform fibromyxoma: a distinctive benign gastric antral neoplasm not to be confused with a myxoid GIST. 

7. Nield LS, Keri JE, Kamat D. Alopecia in the general pediatric clinic: who to treat, who to refer. 

8. Monciotti C, Zancan L, Cattelan C, et al. Gastric trichobezoar: a case report (author’s transl) [in Italian]. 

9. Barzilai M, Peled N, Soudack M, Siplovich L. Trichobezoars [in Hebrew]. 

10. Wadlington WB, Rose M, Holcomb GW Jr. Complications of trichobezoars: a 30-year experience. 

11. Doski JJ, Priebe CJ Jr, Smith T, Chumas JC. Duodenal trichobezoar caused by compression of the superior mesenteric artery. 

A 14-year-old girl had fatigue, a slight sore throat, and low-grade fever for a week. The mother was concerned that she had “mono” like her older sister who had the same symptoms and in whom the illness was diagnosed 2 months earlier.

Abdominal Mass in Teenage Girl: Hair's the Diagnosis

Given the array of childhood disorders that can adversely affect the immune system, most pediatricians at some point will care for children who are immunodeficient. The well-child care of these patients, just like that for immunocompetent children, includes counseling parents about routine vaccines.

In this article, we discuss the basic principles (as articulated by the American Academy of Pediatrics [AAP]5,6 and other sources

) that guide decisions about how best to protect immunocompromised children against vaccine-preventable illnesses. Although we could not address every possible immunodeficiency state, we have included a variety of important and representative examples. Keep in mind that the unique medical circumstances of each immunocompromised child need to be considered to determine the optimal individual vaccination plan.

PREVALENCE OF CHILDHOOD IMMUNODEFICIENCY ON THE RISE


 Primary immunodeficiency diseases (inherited defects of humoral or cellular immunity and defects of phagocytes and the complement system) occur in an estimated 1 in 10,000 persons.

On the basis of telephone interviews, Boyle and Buckley

 report a calculated prevalence of primary immunodeficiency diseases (such as common variable immunodeficiency, IgA and IgG subclass deficiencies, and others) of 1 in 2000 in US children.

Data indicate that the number of children becoming immunocompromised as a result of secondary conditions (infections, cancer, use of medications, malnutrition, diabetes, kidney disease, and so forth) is increasing. Between the start of the AIDS epidemic and 2007, AIDS was diagnosed in approximately 10,000 children younger than 13 years in the United States.

The number of US children who received an organ transplant in a given year increased 13% from 1995 to 2004, such that in 2004, there were almost 2000 pediatric transplant recipients.

 The American Cancer Society predicts that in 2009, cancer will be diagnosed in about 10,730 US children younger than 15 years.

 In addition, for all childhood cancers combined, the 5- year relative survival has increased from less than 50% before the 1970s to nearly 80% today

; this markedly improved survival has further expanded the population of immunocompromised children. Some children in whom cancer develops may have already been vaccinated; however, because of medical procedures such as allogenic bone marrow transplantation, preexisting immunities may be attenuated or lost.

Eventually, vaccination regimens need to be established for all of these immunocompromised children.

VACCINATIONS AND IMMUNOCOMPROMISED CHILDREN: THE BASICS

 To clarify a given child's immune status, his or her underlying diagnoses need to be considered and the degree of immunosuppression must be determined. You may want to consult an immunologist to aid in the immunological evaluation and in development of the vaccination plan. Other medical specialists, such as a hematologist-oncologist, may also provide helpful suggestions.

Perform Careful Assessment of Risks Versus Benefits

 The risks and benefits of vaccinating an immunocompromised child have to be considered before any vaccines are administered.

 There have been many studies of vaccine safety and efficacy in immunocompromised children

; several representative studies involving secondary immunodeficiency conditions are listed in 

. However, because there is such diversity in the primary and secondary conditions that can lead to immunosuppression, each child will need to be considered individually in order to determine his actual risk of acquiring natural infection and of experiencing complications from such an infection-as well as the risk associated with vaccine administration.

Only then can the risks of vaccination be accurately weighed against those of not vaccinating.

) are generally safe in children with primary and secondary immunodeficiencies, although a modified schedule may be necessary. However, while they are safe, inactivated vaccines may not incite an effective immune response in these children.

All vaccines are probably ineffective in children with severe immunosuppression, such as those with severe combined immunodeficiency or complete DiGeorge syndrome.

In children who are unable to mount an antibody immune response, passive immunization with intravenous immunoglobulin (IVIG) is the main therapeutic intervention for preventing infections.

Attenuated immune responses following vaccination are likely in children with less severe disorders, such as selective IgA deficiency or IgG subclass deficiencies. However, because the immune response may not be adequate and immunity cannot be assumed, measurement of prevaccination and postvaccination antibody titers may be helpful.

 Consultation with an immunologist is helpful in such situations.

In patients with complement deficiencies or disorders of phagocyte numbers or function, all routine vaccines are probably effective.

Although all inactivated vaccines are important, some are especially so in children with certain primary deficiencies (for example, the meningococcal vaccine in patients with terminal complement deficiencies and the pneumococcal and meningococcal vaccines in patients with asplenia).

The effectiveness of inactivated vaccines in children with secondary immunodeficiency states varies; it is dependent on both the degree of immunosuppression and the underlying condition with which the immunosuppression is associated. Immunity to infection is not always guaranteed postvaccination. For example, administration of tetanus immunoglobulin is necessary if a child with HIV infection experiences a tetanus-prone wound, whether or not the child has been vaccinated.

Special rules govern vaccine administration in patients who are immunosuppressed as a result of medical interventions. In children who are receiving immunosuppressive agents or chemotherapy, the routine immunization schedule may need to be adjusted. In a child receiving immunosuppressive agents, vaccination should occur at least 3 months after the agents have been stopped; the amount of time required for an adequate immune response to occur varies depending on the specifics of the earlier treatment regimen. Various vaccination and revaccination strategies have been developed for patients who have had chemotherapy or a bone marrow transplant.

In patients with HIV infection, some vaccines (influenza, tetanus, and pneumococcal polysaccharide) have been associated with an increase in viremia. However, the exact clinical significance of this phenomenon is unknown.

For Certain Children, Consider Live Vaccines for Which Safety and Efficacy Data Are Available 

 The live vaccines routinely recommended in the United States are the measlesmumps- rubella (MMR) vaccine, the varicella vaccine, the live attenuated influenza vaccine (LAIV), and the rotavirus vaccine (

). The manufacturers of the rotavirus vaccine licensed for use in the United States warn that no safety  or efficacy data are available for its administration to infants who are potentially immunocompromised, including those receiving immunosuppressive therapy.

 However, safety and efficacy data are available for the MMR and varicella vaccines. Thus, these vaccines can be administered to some children with primary or secondary immunodeficiency states, depending on the patient's immune status.

All live vaccines are contraindicated in patients with severe immunodeficiency disorders or T-cell immunodeficiency disorders, such as severe combined immunodeficiency syndrome, DiGeorge syndrome, Wiskott-Aldrich syndrome, and ataxia telangectasia.

 It is important to emphasize that postvaccination immunity is not guaranteed in immunocompromised children. Thus, it is recommended that immunoglobulin be administered to children with HIV infection and those who are severely immunocompromised, regardless of immunization status, if they have been exposed to measles or varicella. 

 If a child has received immunoglobulin as a treatment for another disease, live vaccines must be delayed for 6 months.

. In children who have conditions associated with antibody deficiencies, such as X-linked agammaglobulinemia, measles vaccination can be considered.6 However, these children may not develop antibody responses to vaccines. Also, these patients are protected by the specific antibodies they receive through the IVIG they are given; thus, vaccination may be unnecessary.

. In children with HIV infection aged 1 to 8 years who are in CDC clinical category N, A, or B, the MMR vaccine is recommended. Varicella vaccine may be considered in children with HIV infection if their CD4+ T-lymphocyte percentage is 15% or greater. For children with HIV infection who are older than 9 years, consider the MMR and varicella vaccines if the CD4+ cell counts are greater than 200/µL. Although the MMR and varicella vaccines should not be given to infants with HIV infection, the rotavirus vaccine may be administered both to infants infected with HIV and to infants who have been exposed to HIV.

. In patients with complement and neutrophil dysfunction, live virus vaccines are considered safe. However, live bacteria vaccines, such as BCG and the live typhoid vaccine that contains Ty21a 

, are contraindicated in patients with neutrophil dysfunction.

. In patients with iatrogenic immunosuppression, immunization with live vaccines is most successful when vaccination is completed before initiation of the immune-modifying therapy or when the immunosuppressive agents have been temporarily discontinued.

When it comes to vaccinating the child who will need to begin aggressive therapy with immune-modifying medication, forethought is crucial. Levin

 states that the ideal window of opportunity for vaccinating children who will be receiving immunosuppressive therapy varies depending on the immune-modifying treatment regimen that they will receive.

. Children who have been receiving systemic corticosteroids for more than 14 days (at a dosage of more than 2 mg/kg/d or with a total daily dose of more than 20 mg of prednisone in a child who weighs more than 10 kg) are considered immunosuppressed. 6 In a child who has received corticosteroids for 2 weeks or longer, live vaccines can be administered no earlier than 3 months after discontinuation of the corticosteroids. 

 lists other corticosteroid treatment settings.

 All close contacts who are eligible for vaccinations should be maximally vaccinated; they should receive all routine recommended vaccines, including the live attenuated MMR, varicella, and rotavirus vaccines. 

Good hand washing is always essential, but particularly so when the rotavirus vaccine has been administered. Viral shedding in recipients of the rotavirus vaccine occurs as early as 1 day after vaccination and as late as 15 days after a dose

; thus, good hand washing is essential for anyone who cares for infants who have received the rotavirus vaccine. With respect to LAIV, limited data are available regarding transmission of the virus from vaccinated persons to immunocompromised patients; however, transmission is thought to occur rarely. It is very important to administer the influenza vaccine annually to all contacts of immunocompromised patients.

 The pediatric health care provider is referred to the AAP and the CDC for the most up-to-date recommendations on vaccinations in all patients. Recommendations concerning the immunization of immunocompromised children change frequently as more studies about safety and efficacy and new vaccines become available.


1. Pirofski LA, Casadevall A. Use of licensedvaccines for active immunization of the immunocompromisedhost. 

. 1998;11:1-26.
2. American Academy of Pediatrics. 

 infections. In: Pickering LK, Baker CJ,Kimberlin DW, Long SS, eds. Red Book: 2009Report of the Committee on Infectious Diseases. 28thed. Elk Grove Village, IL: 

; 2009:314-321.
3. Markowitz LE, Dunne EF, Saraiya M, et al;Centers for Disease Control and Prevention (CDC),Advisory Committee on Immunization Practices(ACIP). Quadrivalent human papillomavirus vaccine:recommendations of the Advisory Committeeon Immunization Practices (ACIP). 

. 2007;56(RR-2):1-24.
4. Centers for Disease Control and Prevention(CDC). Preventing pneumococcal disease amonginfants and young children: recommendations of theAdvisory Committee on Immunization Practices(ACIP). 

. 2000;49(RR-9):1-38.
5. American Academy of Pediatrics. Human immunodeficiencyvirus infections. In: Pickering LK,Baker CJ, Kimberlin DW, Long SS, eds. 

Red Book:2009 Report of the Committee on Infectious Diseases

; 2009:380-400.
6. American Academy of Pediatrics. Immunocompromisedchildren. In: Pickering LK, Baker CJ,Kimberlin DW, Long SS, eds. 

Red Book: 2009 Reportof the Committee on Infectious Diseases

 2009:72-87.
7. Centers for Disease Control and Prevention(CDC). Guidelines for the prevention and treatmentof opportunistic infections among HIV-exposedand HIV-infected children. Recommendations fromCDC, the National Institutes of Health, the HIVMedicine Association of the Infectious DiseasesSociety of America, the Pediatric Infectious DiseasesSociety, and the American Academy of Pediatrics.MMWR. 2009;58:161-164. 

http://aidsinfo.nih.gov/contentfiles/Pediatrics_OI.pdf

. Accessed September2, 2009.
8. Rotateq [package insert]. Whitehouse Station,NJ: Merck and Co, Inc; 2007.
9. Marin M, GÃ¼ris D, Chaves SS, et al; Centers forDisease Control and Prevention. Prevention ofvaricella: recommendations of the Advisory Committeeon Immunization Practices (ACIP).

.2007;56(RR-4):3.
10. Bliss SJ, O'Brien KL, Janoff EN, et al. The evidencefor using conjugate vaccines to protect HIVinfectedchildren against pneumococcal disease.

 Infect Dis. 2008;8:67-80.
11. Calaminus G, Hense B, Laws HJ, et al. Diphtheria(D) and tetanus (T) antibody values inchildren with acute lymphoblastic leukaemia (ALL)after treatment according to Co-ALL 05/92. 

. 2007;219:355-360.
12. Patel SR, Ortin M, Cohen BJ, et al. Revaccinationof children after completion of standard chemotherapyfor acute leukemia. 

. 2007;44:635-642.
13. Emir S, BÃ¼yÃ¼kpamukÃ§u M, KÃ¶seoglu V, et al.Varicella vaccination in children with lymphoma andsolid tumors. 

. 2006;82:760-762.
14. Masten B, McWilliams B, Lipscomb M, et al.Immune response to hepatitis B vaccine in asthmaticchildren. 

. 2003;36:522-528.
15. Clarke P, Powell PJ, Goldblatt D, Robinson MJ.Effect of a fourth Haemophilus influenzae type bimmunisation in preterm infants who received dexamethasonefor chronic lung disease. Arch Dis Child

. 2003;88:F58-F61.
16. LaRussa P, Steinberg S, Gershon AA. Varicellavaccine for immunocompromised children: resultsof collaborative studies in the United States andCanada. 

. 1996;174(suppl 3):S320-S323.17. McLaughlin M, Thomas P, Onorato I, et al.Live virus vaccines in human immunodeficiencyvirus-infected children: a retrospective survey.

Given the array of childhood disorders that can adversely affect the immune system, most pediatricians at some point will care for children who are immunodeficient.

Vaccinating theImmunocompromised Child

A 13-year-old girl presented to her primary care pediatrician for continuing evaluation of intermittent right lower quadrant and right hip pain of 7 months' duration. As part of the workup, a pediatric orthopedist had ordered an MRI scan of her pelvis. The findings were normal except for the presence of multiple ovarian follicles bilaterally (Figures 1 and 2).

Figure 1 – This coronal T2-weighted MRI scan of the pelvis demonstrates innumerable Subcapsular follicles in the left ovary. The follicles replace most of the normal ovarian tissue and measure about 6 mm each.

Figure 2 – This axial T2-weighed MRI scan of the pelvis shows multiple subcapsular follicles in both ovaries. The ovaries measure 4.5 to 5 cm bilaterally.

 The patient's height was 161.8 cm (75th percentile), weight was 75 kg (above the 95th percentile), and body mass index was 28.6 kg/m

 (above the 95th percentile). Menarche began at age 10 years. She reported having amenorrhea for 4 months and mood swings.

She appeared well, had moderate acne on her forehead and chin, a few prominent hairs above her upper lip, a small linear patch of hyperpigmentation on her neck, and obvious abdominal obesity; there was no thyromegaly. Abdominal and musculoskeletal examinations, including evaluation of the hips, were normal.

Autoimmune thyroiditis (AIT) had been diagnosed about 1 year earlier during a workup for fatigue. Antithyroglobulin antibodies were detected at a level of 286 IU/mL (reference range, less than 40 IU/mL). Thyroid replacement therapy was unnecessary because the thyroid-stimulating hormone and free thyroxine levels were normal and have remained normal; the fatigue, which was probably caused by a self-limited viral infection, resolved.

Review of the patient's clinical symptoms and MRI findings pointed to a diagnosis of polycystic ovary syndrome (PCOS).

Daily hormonal therapy with combination estrogen and progesterone was prescribed, and lifestyle changes, which included increased physical activity and a more nutritious diet, were initiated. The patient's pain, menstrual irregularity, and mood swings abated within 3 months.

PCOS is characterized by chronic anovulation, hyperandrogenism, and polycystic-appearing ovaries. The PCOS diagnosis is determined by a constellation of clinical, laboratory, and radiological findings in a female patient of reproductive age.

In a review by Porter,1 the controversies involved in diagnosing PCOS are described, along with the criteria established in 1990 by the NIH and in 2003 by the Rotterdam workshop.

 The NIH diagnostic criteria for PCOS required all of the following:

Clinical or biochemical evidence of hyperandrogenism.

The Rotterdam criteria required 2 of 3 criteria:

Hyperandrogenism or polycystic ovaries on ultrasonogram.

The Rotterdam definition potentially includes more patients (ie, those without androgen excess).

The associated clinical findings and symptoms of PCOS include menstrual irregularity, infertility, effects secondary to excess androgens (hirsuitism, male-pattern alopecia, acne), obesity, fatigue, and acanthosis nigricans. PCOS may affect up to 10% of premenopausal women. It may be on the rise in adolescents because of the increasing obesity epidemic in children.

Laboratory findings in a patient with PCOS may include hyperinsulinemia and elevated levels of luteinizing hormone (LH), testosterone,dehydroepiandrosterone sulfate (DHEAS), 17 hydroxyprogesterone (17-OHP), and estrone. Insulin resistance also goes hand-in-hand with PCOS.

Transvaginal ultrasonography is the radiological study of choice to evaluate the ovaries for the number of follicles, size, and stroma.

 polycystic ovaries are identified by the presence of 8 or more peripheral follicular cysts (10 mm or smaller) and increased central ovarian stroma. In most instances, an ultrasonogram is not needed for diagnosis and an MRI scan is typically not included in the workup of a patient with suspected PCOS; however, MRI can provide very clear images of polycystic ovaries, as shown in Figures 1 and 2.

 concluded that compared with ultrasonography, MRI provides greater delineation of the structural components of the ovary in obese girls with PCOS. On MRI, a functional cyst would appear as a single dominant cyst as opposed to multiple cysts involving both ovaries, which are seen in patients with PCOS.

Prompt recognition and treatment of PCOS in the young adolescent is essential for abatement of symptoms. The goal of therapy is to restore menstrual cycles and reduce signs of hyperandrogenism. Current interventions include lifestyle modifications (increased exercise, weight reduction), oral contraceptives, and metformin for those patients with insulin resistance.

The association of PCOS and AIT has been described mainly in women in the third decade of life or older.

 In a prospective multicenter study that included one 16-year-old patient, Janssen and colleagues

 revealed a 3-fold higher prevalence of AIT in patients with PCOS compared with age-matched controls. Elevated levels of thyroperoxidase or thyroglobulin antibodies were found in 47 (26.9%) of 175 patients with PCOS compared with only 14 (8.3%) of 168 controls.10 More than 40% of patients with PCOS also had hypoechoic tissue typical of AIT on ultrasonograms of the thyroid. The thyroid findings correlated to some degree with an increased estrogen to progesterone ratio.

suggest screening all patients with PCOS for thyroid dysfunction and thyroid-specific autoantibodies even when there is no evidence of overt thyroid dysfunction; however, this practice is not widely recommended.

The increased prevalence of AIT in PCOS is possibly explained by an imbalance of estrogen and progesterone. 

 Patients with PCOS have anovulatory cycles, which result in low to no progesterone levels and elevated estrogen levels. Lee and colleagues

 suggest that depletion of progesterone from anovulatory cycles in patients with PCOS may act as an immune system stimulant, which leads to AIT; likewise, restoration of ovulatory cycles may prevent AIT in patients with PCOS. They propose that the association between PCOS and AIT may be secondary to a common genetic defect, although the specific defect is still unknown.

Although disorders such as hypothyroidism and other endocrine abnormalities (congenital adrenal hyperplasia and hyperprolactinemia) can lead to polycystic ovaries, PCOS was the most likely diagnosis in this case. We believe the right lower quadrant pain and right hip pain in this patient was related to the PCOS/ menstrual irregularity; the pain resolved with adherent oral contraceptive treatment. Although the patient had a diagnosis of autoimmune thyroiditis, results of thyroid function tests were within the normal range. An evaluation of this patient by an endocrinologist, after hormonal therapy was initiated, revealed normal serum levels of 17-OHP, testosterone, prolactin, free thyroxine, and thyroid-stimulating hormone.

 The authors would like to acknowledge Stephany S. Swart, MD, associate professor of radiology, for her assistance with the figures and figure legends.

Porter MB. Polycystic ovary syndrome: the controversy of diagnosis by ultrasound. 

The Rotterdam ESHRE/ASRM-Sponsored PCOS consensus workshop group. Revised 2003 consensus on diagnostic criteria and long-term health risks related to polycystic ovary syndrome (PCOS). 

Hassan A, Gordon CM. Polycystic ovary syndrome update in adolescence. 

Bili H, Laven J, Imani B, et al. Age-related differences  in features associated with polycystic ovary syndrome in normogonadotrophic oligo-amenorrhoeic infertile women of reproductive years. 

Author | Linda S. Nield, MD

Articles

Newborn With Urinary Dysfunction

Abdominal Mass in Teenage Girl: Hair's the Diagnosis

Vaccinating theImmunocompromised Child

Polycystic Ovary Syndrome