Siobhan T. Pittock

Mayer–Rokitansky–Küster–Hauser anomaly and its associated malformations

Mayer–Rokitansky–Küster Hauser (MRKHA) is a malformation complex comprising absent vagina and absent or rudimentary uterus. The aim of our study was to describe the type and frequency of anomalies associated with the MRKHA. Between 1975 and 2002, 25 patients with a diagnosis of MRKHA were identified at the Mayo Clinic. These charts were reviewed retrospectively. Two of the 25 patients were found to have absence of one ovary and two patients had unilateral oophorectomies performed for benign cysts. Four patients had minor anomalies and two had digital anomalies. The frequency of scoliosis (20%), unilateral renal agenesis (28%), non‐vertebral skeletal anomalies (16%) and of the MURCS association (Müllerian agenesis, renal agenesis/ectopia and cervical somite dysgenesis), 16%, was similar compared to that of other published studies. Vertebral abnormalities were found more frequently in our patients (44%). Four patients had cardiac defects, an anomaly not previously described, including truncus arteriosus, patent ductus arteriosus and patent foramen ovale, mitral valve prolapse, and mild mitral regurgitation. We document cardiac anomalies in 16% of our patients with MRKHA suggesting that a search for associated anomalies including cardiac defects is indicated in all such patients.

Pediatric Endocrine Surgery: A 20-Year Experience at the Mayo Clinic

CONTEXT Surgically managed endocrinopathies are rare in children. Most surgeons have limited experience in this field. Herein we report our operative experience with pediatric patients, performed over two decades by high-volume endocrine surgeons. SETTING The study was conducted at the Mayo Clinic (a tertiary referral center). PATIENTS Patients were <19 years old and underwent an endocrine operation (1993-2012). MAIN OUTCOME MEASURES Demographics, surgical procedure, diagnoses, morbidity, and mortality were retrospectively reviewed. RESULTS A total of 241 primary cases included 177 thyroid procedures, 13 neck dissections, 24 parathyroidectomies, 14 adrenalectomies, 7 paragangliomas, and 6 pancreatic procedures. Average age of patients was 14.2 years. There were 133 total thyroidectomies and 40 hemithyroidectomies. Fifty-three cases underwent a central or lateral neck dissection. Six-month follow-up was available for 98 total thyroidectomy patients. There were four cases of permanent hypoparathyroidism (4%) and no permanent recurrent laryngeal nerve (RLN) paralyses. Sequelae of neck dissections included temporary RLN neurapraxia and Horners syndrome. Parathyroidectomy was performed on 24 patients: 20 with primary hyperparathyroidism (HPT), three with tertiary HPT, and one with familial hypocalciuric hypocalcemia. Three patients (16%) had recurrent HPT, all with multiglandular disease. One patient had temporary RLN neurapraxia. We performed seven bilateral and seven unilateral adrenalectomies; eight were laparoscopic. Indications included pheochromocytoma, Cushings syndrome, adrenocortical carcinoma, congenital adrenal hyperplasia, and ganglioneuroma. One death was due to adrenocortical carcinoma. Five paraganglioma patients had succinate dehydrogenase subunit B mutations, and one recurred. Six patients with insulinoma underwent enucleation (n = 5) or distal pancreatectomy (n = 1). A single postoperative abscess was managed nonoperatively. CONCLUSION Pediatric endocrine procedures are uncommon but can be safely performed with complication rates comparable to those of the adult population. It is imperative that these operations be performed by high-volume surgeons.

Cases of congenital adrenal hyperplasia missed by newborn screening in Minnesota

新生兒體內因缺乏21-羥化酵素(21α-hydroxylase)導致血中的 17-hydroxyprogesterone(17-OHP)濃度升高,是新生兒篩檢中鑑別先天腎上腺 增生症(CAH)的重要指標。研究基礎為明尼蘇達州自1991/1至2010/12的新生兒篩 檢共838 241例,採集新生兒出生後24-48小時篩檢血片,以時差式螢光免疫分析 法(time-resolved fluoroimmumoassay)測血片中17-OHP數值。研究方法是由明 尼蘇達州衛生部門與三家兒科內分泌中心共同合作整理新生兒篩檢結果呈偽陰 性的病例,分析包括基因檢測,血清中17-OHP數值,臨床及生化表徵。 結果: 在篩檢期間,有52例確診為典型CAH,15例典型CAH包括6例男生和9例女生 (5例salt-wasting和10例simple virilizing 型)第一次篩檢結果正常,偽陰性 率至少為22.4%。造成偽陰性結果的原因不明,可能在於17-OHP增加的時間點較 晚和/或篩檢的敏感度有關。 結論: 即使新生兒篩檢陰性也不能完全排除CAH的可能性,偽陰性結果反而會誤 導並延遲診斷。因此觀察新生兒性別特徵非常重要,尤其是女嬰性別特徵不明 時,更應該加以注意。另外,新生兒篩檢系統應加強教育臨床醫師篩檢偽陰性的 概念,對潛在的偽陰性病人加以適當的臨床關注,以便即時診斷。

Ease of Administration of the Cognitive Adaptive Test/Clinical Linguistic and Auditory Milestone Scale (CAT/CLAMS) During Pediatric Well-Child Visits

Barriers to early identification of children with developmental delays include time constraints during well-child visits and lack of easily administered, quantitative measures that can be used by pediatricians. This study assesses the ease of administration of the Cognitive Adaptive Test/Clinical Linguistic and Auditory Milestone Scale (CAT/CLAMS) during well-child visits from 2 to 36 months of age. During a single visit 177 children were assessed by either a developmental pediatrician (n = 121) or a third-year pediatric resident (n = 56). The mean time required to complete the CAT/CLAMS for all subjects was 6 minutes and 10 seconds (SD 2 minutes 44 seconds); less than 10 minutes was required in 92% of children assessed. There were no significant differences in the time required by the 2 examiners at any age level. Its ease of administration and psychometric properties make the CAT/CLAMS an excellent choice for the assessment of early development by primary care pediatricians.

Accuracy of thyroid nodule sonography for the detection of thyroid cancer in children: Systematic review and meta-analysis

Thyroid ultrasound (US) is a widely used tool for evaluating thyroid nodules. Various US features have been suggested as predictors of thyroid cancer in children.

Induction of Heme Oxygenase-1 as a Protective Response Against Heme Protein-Induced Renal Injury

The recognition that heme oxygenase (HO) activity is induced when tissues are exposed to heme and other insults raised the question of the functional significance of such induction.1, 2, 3, 4 Evidence attesting to the cytoprotective effects of such induction of HO was first presented in the glycerol model of acute renal failure wherein the kidney is exposed acutely to a large burden of heme proteins originating from damaged skeletal muscle and red blood cells;5 examination of the induction of HO-1 in this disease model was predicated, in part, on the recognized toxicity of heme when present in inordinate amounts in tissues.6

Thyroid Nodules in Children

Thyroid nodules are less common in children than in adults, but when present they are more likely to be malignant; by far the most common thyroid malignancy in childhood is papillary thyroid carcinoma, and it is increasing in frequency. When a thyroid nodule is discovered by palpation or incidentally on imaging, the focus should be on determining the risk of malignancy.

Thyroid storm after choking

Abstract Background: A thyroid storm (TS) is a rare, but life-threatening condition in hyperthyroid patients. Mortality in adult TS patients may be as high as 10%. Typically, a trigger precipitates the storm in hyperthyroid patients. Case presentation: We report the case of an adolescent girl with untreated hyperthyroidism who developed fulminant TS after a significant choking episode. Initially, she was found to have neck swelling and tachycardia leading providers to suspect infection. She deteriorated after a CAT Scan (CT) was performed with iodine contrast, potentially worsening storm symptoms. Here, we describe the case, the treatment strategy and propose a treatment modification for pediatric patients. Conclusions: While many children are found to have minor abnormalities in thyroid studies, this case highlights the critical importance of prompt medical attention for any child with significantly elevated free thyroxine (FT4) levels as morbidity can occur when left untreated.

Ultrasonography and the American Thyroid Association Ultrasound-Based Risk Stratification Tool: Utility in Pediatric and Adolescent Thyroid Nodules

Background: Pediatric thyroid nodules are more likely to be malignant compared to those in adults and may have different concerning ultrasound (US) features. Recent adult guidelines stratify malignancy risk by US features. Our aim is to (1) describe and confirm US features that predict pediatric malignancy, and (2) apply the Adult American Thyroid Association (ATA) Risk Stratification Guidelines to a large pediatric cohort. Methods: We identified 112 children with 145 thyroid nodules from 1996 to 2015. Two blinded pediatric radiologists independently read all US images, described multiple features, and reported their overall impression: benign, indeterminate, or malignant. Each nodule was assigned an ATA risk stratification category. Radiologists’ impressions and ATA risk stratification were compared to histology and cytology results. Results: Multiple US features including a solid composition, presence of microcalcifications, irregular margins, increased blood flow, and hypoechogenicity were associated with increased odds of malignancy. ATA risk stratification correlated with the radiologists’ overall impression (p < 0.001). The sensitivity for detecting malignancy was comparable between both ATA stratification (91%) and the radiologists’ overall impression (90%). The specificity of the radiologists’ malignant overall impression (80%) was better compared to the ATA high risk stratification (54%). Conclusions: At our institution, pediatric radiologists’ overall impressions had similar sensitivity but better specificity for detecting malignancy than the ATA risk stratification tool by our convention. However, neither US-based methods perfectly discriminated benign from malignant nodules, supporting the continued need for fine needle aspiration for suspicious nodules. Further work is needed to develop an US-based scoring system specific to pediatric patients.

Diagnostic Accuracy of the McGill Thyroid Nodule Score in Pediatric Patients

Thyroid cancer is the most common paediatric endocrine cancer; accurate diagnosis and prompt management of paediatric thyroid nodules is critical. The McGill Thyroid Nodule Score (MTNS), based upon clinical, ultrasound (US) and cytology criteria, has recently been modified and studied in a pilot paediatric group with good results. We aim to describe the diagnostic accuracy of the paediatric modified MTNS (PMTNS) in a large paediatric cohort.