Pediatric endocrine

PURPOSE OF REVIEW: Total pancreatectomy with islet autotransplantation (TPIAT) is a reliable therapy to retain endocrine function, to alleviate pain and improve quality of life in adult and pediatric patients suffering from refractory chronic pancreatitis and recurrent acute pancreatitis. Recently, an expansion of indications to include benign and malignant pancreatic disease has been suggested. Improved methods for evaluating the functional quality of islets and predicting transplant outcome have been discussed...

Turner syndrome affects 25-50 per 100,000 females and can involve multiple organs through all stages of life, necessitating multidisciplinary approach to care. Previous guidelines have highlighted this, but numerous important advances have been noted recently. These advances cover all specialty fields involved in the care of girls and women with TS. This paper is based on an international effort that started with exploratory meetings in 2014 in both Europe and the USA, and culminated with a Consensus Meeting held in Cincinnati, Ohio, USA in July 2016...

BACKGROUND: Achondroplasia (ACH), an autosomal dominant skeletal dysplasia, occurs in approximately 1:20,000 births. On the other hand, 47,XXY aneuploidy (Klinefelter syndrome [KS]) is the most common sex chromosome disorder, with a prevalence of approximately 1:600 males. To the best of our knowledge, only five cases of patients presenting both ACH and KS have been reported to date in the international literature. However, none of these cases has been longitudinally followed during the entire childhood...

Next-generation sequencing (NGS) and array-based comparative genomic hybridization (array CGH) have enabled us to perform high-throughput mutation screening and genome-wide copy number analysis, respectively. These methods can be used for molecular diagnosis of pediatric endocrine disorders. NGS has determined the frequency and phenotypic variation of mutations in several disease-associated genes. Furthermore, whole exome analysis using NGS has successfully identified several novel causative genes for endocrine disorders...

Children and adolescents who present with neuroendocrine tumors are at extremely high likelihood of having an underlying germline predisposition for the multiple endocrine neoplasia (MEN) syndromes, including MEN1, MEN2A and MEN2B, MEN4, and hyperparathyroid-jaw tumor (HPT-JT) syndromes. Each of these autosomal dominant syndromes results from a specific germline mutation in unique genes: MEN1 is due to pathogenic MEN1 variants (11q13), MEN2A and MEN2B are due to pathogenic RET variants (10q11.21), MEN4 is due to pathogenic CDKN1B variants (12p13...

BACKGROUND: Achondroplasia (ACH), an autosomal dominant skeletal dysplasia, occurs in approximately 1:20,000 births. On the other hand, 47,XXY aneuploidy (Klinefelter syndrome [KS]) is the most common sex chromosome disorder, with a prevalence of approximately 1:600 males. To the best of our knowledge, only five cases of patients presenting both ACH and KS have been reported to date in the international literature. However, none of these cases has been longitudinally followed during the entire childhood...

Noncompliance in obtaining daily weights leads to delays in establishing treatment and discharge plans in pediatric populations. An inpatient gastrointestinal and endocrine nursing unit aimed to increase compliance of obtaining daily weights from baseline of 38% to 80%. The time daily weights were obtained was changed from 8 AM to an interval of time 4 PM to 6 PM. The compliance rate increased to 96% and has been sustained at an average of 94% over 24 months. This report describes a low-risk intervention that took minimal effort to implement but yielded high results to exceed the goal...

Anti-Mullerian hormone (AMH), secreted by immature testicular Sertoli-cells, triggers the regression of male fetal Mullerian ducts. During puberty, AMH is downregulated by intratesticular testosterone. In females, AMH is secreted from granulosa cells of immature ovarian follicles from late prenatal life until menopause; serum concentration is 5-20 times lower in females than in males through lifetime. In boys, AMH determination is useful in the clinical setting as a marker of Sertoli cell function. Serum AMH is low in infants with hypogonadotrophic hypogonadism (and increases with FSH treatment), in patients with primary hypogonadism from early postnatal life and in Klinefelter syndrome from midpuberty...

BACKGROUND: Well-differentiated thyroid cancer is the most common endocrine malignancy in children. Adult literature has demonstrated socioeconomic disparities in patients undergoing thyroidectomy, but the effects of socioeconomic status on the management of pediatric well-differentiated thyroid cancer remains poorly understood. METHODS: Patients ≤21 years of age with well-differentiated thyroid cancer remains were reviewed from the National Cancer Data Base...

No abstract text is available yet for this article.

No abstract text is available yet for this article.

OBJECTIVE: To determine whether hormonal treatments for frequent clinical cases (short stature, delayed and precocious puberty) are prescribed strictly according to clinical guidelines or based on personal tendencies, and whether the decisions correlate with physician's personal demographics (age, sex, and place of practice). METHODS: Cross-sectional survey, with made-up clinical cases, distributed to pediatric endocrinologists using 2 web-based professional forums, Israeli and an international...

We analyzed the relation of pretreatment anthropometric measures and serum thyrotropin (TSH) with the levothyroxine requirement. Children (3-18 years) brought to endocrine clinic with newly diagnosed acquired primary hypothyroidism were enrolled consecutively and prospectively with follow-up (July 2014 to April 2016). Children were started on levothyroxine, and dose was adjusted at regular intervals until achieved euthyroidism (serum TSH 0.4 to 4.5 mIU/L). The relationship of age, gender, height, weight, and serum TSH with levothyroxine dose was analyzed by univariate and multivariate regression analysis...

The endocrine system is crucial for maintaining whole-body homeostasis. Little is known regarding endocrine hormones secreted by the heart other than atrial/brain natriuretic peptides discovered over 30 years ago. Here, we identify growth differentiation factor 15 (GDF15) as a heart-derived hormone that regulates body growth. We show that pediatric heart disease induces GDF15 synthesis and secretion by cardiomyocytes. Circulating GDF15 in turn acts on the liver to inhibit growth hormone (GH) signaling and body growth...

PURPOSE OF REVIEW: The purpose of this Position Statement is to emphasize the importance of an affirmative approach to the health care of transgender individuals, as well as to improve the understanding of the rights of transgender youth. RECENT FINDINGS: Transgender youth have optimal outcomes when affirmed in their gender identity, through support by their families and their environment, as well as appropriate mental health and medical care. SUMMARY: The Pediatric Endocrine Society Special Interest Group on Transgender Health joins other academic societies involved in the care of children and adolescents in supporting policies that promote a safe and accepting environment for gender nonconforming/transgender youth, as well as adequate mental health and medical care...

PURPOSE: Insulin resistance (IR) has an important role in the development of non-alcoholic steatohepatitis (NASH). We aimed to analyze the association between liver histopathology and IR in pediatric patients with NASH. MATERIALS AND METHODS: In 24 children with non-alcoholic fatty liver disease (NAFLD), we investigated whether the hepatic pathologic characteristics have relations with following three biochemical indices; IR index including homeostasis model assessment of IR (HOMA-IR), quantitative insulin sensitivity check index (QUICKI), and insulin sensitivity indices-free fatty acid (ISI-FFA)...

Multimodal treatment in high-risk neuroblastoma has modestly improved survival; limited data exist on the late effects from these regimens. We report the sequelae of treatment incorporating 3 consecutive cycles of high-dose therapy and autologous stem cell transplants (ASCTs) without the use of total body irradiation (TBI). We reviewed the medical records of 61 patients treated on or following the Chicago Pilot 2 protocol between 1991 and 2008. Of the 25 patients who are alive (41%), 19 had near complete data to report...

The evaluation and management of a newborn with ambiguous genitalia must be undertaken as quickly as possible and with great sensitivity for the child's family. Where possible, a comprehensive team approach with a pediatric urologist, endocrinologist, geneticist, neonatologist, and child psychiatrist/psychologist should work closely with the family to establish the diagnosis and determine gender. Although the preferred gender assignment is not always clear, a thorough examination of endocrine function, karyotype, and potential for fertility should guide the determination...

PURPOSE OF REVIEW: The Pediatric Endocrine Society recently published new guidelines for the use of human growth hormone (hGH) and human insulin-like growth factor-I (hIGF-I) treatment for growth hormone deficiency, idiopathic short stature, and primary IGF-I deficiency in children and adolescents. This review places the new guidelines in historical contexts of the life cycle of hGH and the evolution of US health care, and highlights their future implications. RECENT FINDINGS: The new hGH guidelines, the first to be created by the Grading of Recommendations Assessment, Development and Evaluation approach, are more conservative than their predecessors...

OBJECTIVES: Congenital hypothyroidism (CH) is most frequently encountered in newborns as an endocrine disorder characterized by thyroid hormone deficiency, and is one of the most common reasons for preventable mental retardation. This prospective study was designed to detect the pediatric occurrences of CH followed as euthyroid, with no anomalies detected via US on the gray scale, in comparison with a pediatric group with normal levels. METHODS: A total of 42 apparently healthy children with no thyroid disorder (Group 1) and 54 euthyroid CH (Group 2) using thyroid hormone were included in this study...