Contingent Screening for Small by Weight for Gestational Age Neonates
Alexander P. Frick, MD, Kypros H. Nicolaides, MD, Liona CY Poon, MD
Effective screening for small for gestational age neonates (SGA), in the absence of preeclampsia, can be accomplished using a contingent screening method. The basis for the contingent model is a combined assessment at 19-24 weeks gestation to stratify patients according to their risk. We can then identify prenatally over 90% of SGA neonates for a false positive rate of 10%.
Ref: Ped. Endocrinol. Rev. 2016;13(3):568-573
Key words: Contingent screening, Uterine artery Doppler, Mean arterial pressure, Serum biochemistry, Small for Gestational Age, Pyramid of antenatal care
Changing and Unchanging Perspectives regarding Intersex in the Last Half Century: Topics Presented in the Lawson Wilkins Lecture* at the 2015 Pediatric Endocrine Society Meeting
Peter A Lee, MD, PhD, Christopher P Houk, MD
The understanding, care and treatment of patients born with intersex or disorders of sex development conditions has evolved considerably over the last five decades. Regarding those who require evaluation before gender assignment is made, each “generation” of approach has been based upon and reflects the contemporary biological, social and psychological understanding. The most recent generation needs to consider the dramatically changed societal viewpoints regarding the acceptance and expansion beyond a binary perception of sexuality. This together with advances in genetic etiologies, surgical refinements and psychological support should result in better care and quality of life (QoL) outcomes for patients with these conditions. This paper reviews the successive generations of approach and discusses the multiple challenges facing the multidisciplinary teams caring for these patients today.
Ref: Ped. Endocrinol. Rev. 2016;13(3):574-584
Key words: Intersex, DSD, 46,XX DSD, 46,XY DSD, Ovotesticular DSD, Genital surgery; Ambiguous genitalia, Sex of rearing, Gender
* Lecture delivered by Peter A Lee, MD, PhD
Evidence-Based Management of Patients with 45,X/46,XY Gonadal Dysgenesis and Male Sex Assignment: from Infancy to Adulthood
Johanna Viau Colindres, MD, Marni Axelrad, PhD, Laurence McCullough, MD, PhD, E. O’Brian Smith, PhD, Gene O. Huang5, MD, Duong D. Tu5, MD, Jennifer L Bercaw-Pratt, MD, Min-Jye Chen, MD, Meenal Mendiratta, MD, Sheila Gunn, MD, Reid Sutton, MD, Charles Macias8, MD, MPH, Lefkothea P. Karaviti, MD, PhD
45,X/46,XY gonadal dysgenesis is a disorder of sexual differentiation with a wide clinical presentation, ranging from Turner-like females to individuals with genital ambiguity to azoospermic but otherwise normal-appearing males. Hence, patients can be assigned female or male sex. Female patients are managed according to the Turner Syndrome Guidelines, whereas males are managed on a case-by-case basis.
Male patients present with multiple medical challenges: undervirilization, hypogonadism, gonadoblastoma risk, and short stature. Many require surgeries and hormonal treatments that are time-sensitive and irreversible. Nonetheless, these therapeutic decisions are made without evidence-based guidelines.
This review describes the medical concerns and possible interventions in male patients with 45,X/46,XY dysgenesis for each stage of development. Interventions should be addressed within a patient-centered framework by a multidisciplinary team and after thorough discussion with the family. We use the GRADE system to appraise the existing evidence and provide recommendations based on the available evidence.
Ref: Ped. Endocrinol. Rev. 2016;13(3):585-601
Key words: Gonadal dysgenesis, Sex assignment, Prenatal diagnosis, Gonadal function in gonadal dysgenesis, Growth in gonadal dysgenesis, Growth hormone in gonadal dysgenesis, Gonadoblastoma
Salivary Biomarkers in Pediatric Metabolic Disease Research
Mor-Li Hartman, PhD, J Max Goodson, DDS, PhD, Roula Barake, PhD, Osama Alsmadi, PhD, Sabiha Al-Mutawa, DDS, Jitendra Ariga, DDS, Pramod Soparkar, DDS, Jawad Behbehani, DDS, DMSc, Kazem Behbehani, MD, PhD
The increasing prevalence of childhood obesity and obesity-related metabolic disorders is now considered a global pandemic. The main goal of the pediatric obesity research community is to identify children who are at risk of becoming obese before their body mass index rises above age norms. To do so, we must identify biomarkers of metabolic health and immunometabolism that can be used for large-scale screening and diagnosis initiatives among at-risk children. Because blood sampling is often unacceptable to both parents and children when there is no direct benefit to the child, as in a community-based research study, there is a clear need for a low-risk, non-invasive sampling strategy. Salivary analysis is now well recognized as a likely candidate for this purpose. In this review, we discuss the physiologic role of saliva and its strengths and limitations as a fluid for biomarker discovery, obesity screening, metabolic disease diagnosis, and response monitoring after interventions. We also describe the current state of the salivary biomarker field as it pertains to metabolic research, with a special emphasis on studies conducted in children and adolescents. Finally, we look forward to technological developments, such as salivary “omics” and point of service diagnostic devices, which have the potential to accelerate the pace of research and discovery in this vitally important field.
BMI, body mass index; CRP, C-reactive protein; CVD, cardiovascular disease; GM-CSF, granulocyte-macrophage colony-stimulating factor; HbA1c, serum glycated hemoglobin A1c; IL, interleukin; IFN, interferon; MCP, monocyte chemotactic protein; MIP, macrophage inflammatory protein; RNS, reactive nitrogen species; ROS, reactive oxygen species; T2D, type 2 diabetes; TNF, tumor necrosis factor; VEGF, vascular endothelial growth factor
Ref: Ped. Endocrinol. Rev. 2016;13(3):602-611
Key words: Saliva, Biomarkers, Obesity, Type 2 Diabetes, Adolescence, Children, Metabolic disease, Hormones, Cytokines, Antioxidants
Thyroid Hemiagenesis from Childhood to Adulthood: Review of Literature and Personal Experience
Vincenzo De Sanctis, MD, Ashraf T Soliman, MD, PhD, FRCP, Salvatore Di Maio, MD, Heba Elsedfy, MD, Nada A Soliman, MD, Rania Elalaily, MD
Thyroid hemiagenesis (TH) is a rare congenital abnormality of the thyroid gland, characterised by the absence of one lobe. The true prevalence of this congenital abnormality is not known because the absence of one thyroid lobe usually does not cause clinical symptoms by itself. Between 1970 and 2010, 329 cases of TH have been reported. It is interesting to note that most cases have an agenesis of the left lobe (80% of cases) followed by the isthmus (44–50% of cases). Although the female to male ratio was 1:1.4 in 24,032 unselected 11- to 14-yr-old schoolchildren from South-eastern Sicily, several other reports have documented a higher prevalence in women, which may indicate a possible gender association. Most cases of TH are diagnosed when patients present a lesion in the functioning lobe. The functioning lobe of the thyroid gland can be a site of pathological changes similar to a normally developed gland and may present a spectrum of diseases like multinodular goiter, colloid goiter, follicular adenoma, thyroiditis, hypothyroidism and hyperthyroidism. In three of our patients, TH was associated with Hashimoto thyroiditis (n=1) and with subclinical hypothyroidism (n= 2). The frequency of thyroid abnormalities in patients with TH varies with age, due to the longer exposure of the hemi-agenetic gland to TSH overstimulation in older patients. This could explain the controversy about the benign character of this anomaly. Other extrathyroidal lesions, such as parathyroid adenoma or hyperplasia, cervical thymic cysts, ectopic sublingual thyroid gland and thyroglossal duct cyst have been reported with TH. Therefore, systematic follow-up of all identified cases is recommended.
Ref: Ped. Endocrinol. Rev. 2016;13(3):612-619
Key words: Thyroid hemiagenesis, Diagnosis, Treatment, Follow-up, Associated pathologies