An Endocrine Society Thematic Issue: Pediatric Endocrinology 2023
August 2023
Read our special collection of journal articles, published in 2022-2023, focused on pediatric endocrinology! Curation of the collection was guided by Altmetric Attention Scores and Featured Article designations.
In Journal of the Endocrine Society, Dubose and colleagues report on normative sensory data and glycemic measures in healthy children without diabetes. McGlacken-Byrne and coauthors discuss management of three girls with delayed puberty and hypergonadotropic amenorrhea of different etiologies. Calvert et al. find that disrupting the slow-wave sleep of pubertal children with sound had no effect on growth hormone pulse amplitude or basal growth hormone secretion.
In JCEM Case Reports, Nasomyont and associates describe the successful treatment of hypoglycemia with alpelisib in pediatric patients with PIK3CA-related overgrowth spectrum. Vitale and Laffel describe the successful use of insulin in a child with new-onset type 1 diabetes accompanied by diabetic ketoacidosis and severe hypertriglyceridemia. Shimura and colleagues report on two Japanese infants who developed hypothyroidism requiring levothyroxine treatment after exposure to iodinated contrast media.
In Endocrine Reviews, Federici et al. review in depth the therapeutic options for inducing puberty in patients with hypogonadism and highlight “persistent shortcomings in clinical practice.” Brito and coauthors discuss the disparate congenital and acquired mechanisms implicated in the etiology of central precocious puberty. Hokken-Koelega and coauthors describe an international consensus guideline on treatment of infants and older children small for gestational age, including discussion of newly identified genetic and epigenetic causes.
In Endocrinology, Guo and co-workers describe research providing insights into the role of casein kinase 1α in testicular development and steroidogenesis. Lin et al. describe second generation programming of the hypothalamic – pituitary – adrenal axis of male rat offspring by a maternal high-fat diet. Evans and associates identify a crucial role for leptin in controlling the onset of female puberty in pituitary adenylate cyclase-activating polypeptide – expressing neurons.
In JCEM, Haj-Ahmad and colleagues document how the serum insulin-like growth factor-1 /insulin-like growth factor binding protein-3 ratio can be a useful marker for the diagnosis of growth hormone deficiency in children. Magnotto et al. describe novel mutations in the gene MKRN3 that were identified in a cohort of children with central precocious puberty and that affect ubiquitination in different ways. And Jee and coauthors summarize recent findings on the associations between early infantile growth, the timing of puberty, and metabolic risks.
Journal of the Endocrine Society
Continuous Glucose Monitoring Profiles in Healthy, Nondiabetic Young Children
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Continuous glucose monitoring (CGM) is increasingly being used both for day-to-day management in patients with diabetes and in clinical research. While data on glycemic profiles of healthy, nondiabetic individuals exist, data on nondiabetic very young children are lacking. This work aimed to establish reference sensor glucose ranges in healthy, nondiabetic young children, using a current-generation CGM sensor.
Management of a Girl With Delayed Puberty and Elevated Gonadotropins
Acute Sleep Disruption Does Not Diminish Pulsatile Growth Hormone Secretion in Pubertal Children
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In children, growth hormone (GH) pulses occur after sleep onset in association with slow-wave sleep (SWS). There have been no studies in children to quantify the effect of disrupted sleep on GH secretion. This study aimed to investigate the effect of acute sleep disruption on GH secretion in pubertal children.
JCEM Case Reports
Successful Treatment of Hypoglycemia With Alpelisib in Pediatric Patients With PIK3CA-Related Overgrowth Spectrum
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New-Onset Type 1 Diabetes in a Child With Diabetic Ketoacidosis and Severe Hypertriglyceridemia Without Pancreatitis
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Hypertriglyceridemia is a complication of diabetic ketoacidosis (DKA) secondary to insulin deficiency inhibiting lipoprotein lipase and increasing lipolysis, but it is rare in children. A 7-year-old boy with history of autism spectrum disorder (ASD) presented with abdominal pain, vomiting, and “heavy breathing.” Initial laboratory tests revealed pH 6.87 and glucose 385 mg/dL (21.4 mmol/L), consistent with new-onset diabetes and DKA. His blood appeared lipemic; triglycerides were 17 675 mg/dL (199.6 mmol/L) with normal lipase (10 units/L). He received intravenous insulin and DKA resolved within 24 hours.
Two Japanese Infants With Hypothyroidism Following Exposure to Iodinated Contrast Media
We report 2 Japanese infants with hypothyroidism requiring levothyroxine (LT4) replacement therapy following exposure to iodinated contrast media (ICM). Patient 1 was born at 32 weeks gestation. He had congenital heart disease and underwent contrast-enhanced computed tomography (CT) on day 22 (estimated amount of iodine: 600 mg/kg/dose).
Endocrine Reviews
New and Consolidated Therapeutic Options for Pubertal Induction in Hypogonadism: In-depth Review of the Literature
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Delayed puberty (DP) defines a retardation of onset/progression of sexual maturation beyond the expected age from either a lack/delay of the hypothalamo-pituitary-gonadal axis activation or a gonadal failure. DP usually gives rise to concern and uncertainty in patients and their families, potentially affecting their immediate psychosocial well-being and also creating longer term psychosexual sequelae. The most frequent form of DP in younger teenagers is self-limiting and may not need any intervention.
The Congenital and Acquired Mechanisms Implicated in the Etiology of Central Precocious Puberty
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The etiology of central precocious puberty (CPP) is multiple and heterogeneous, including congenital and acquired causes that can be associated with structural or functional brain alterations. All causes of CPP culminate in the premature pulsatile secretion of hypothalamic GnRH and, consequently, in the premature reactivation of hypothalamic-pituitary-gonadal axis.
International Consensus Guideline on Small for Gestational Age: Etiology and Management From Infancy to Early Adulthood
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This International Consensus Guideline was developed by experts in the field of small for gestational age (SGA) of 10 pediatric endocrine societies worldwide. A consensus meeting was held and 1300 articles formed the basis for discussions. All experts voted about the strengths of the recommendations. The guideline gives new and clinically relevant insights into the etiology of short stature after SGA birth, including novel knowledge about (epi)genetic causes.
Endocrinology
Casein Kinase 1α Regulates Testosterone Synthesis and Testis Development in Adult Mice
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Casein kinase 1α (CK1α) is a main component of the Wnt/β-catenin signaling pathway, which participates in multiple biological processes. Our recent study demonstrated that CK1α is expressed in both germ cells and somatic cells of mouse testes and regulates spermatogenesis. However, little information is known about the role of CK1α in regulating the development of somatic cells in mouse testes.
Maternal High-Fat Diet Multigenerationally Programs HPA Function and Behaviors in Male Rat Offspring
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Maternal environmental factors have been demonstrated to exert significant influences on the health of offspring. The hypothalamic-pituitary-adrenal (HPA) axis is an important neuroendocrine stress system that can be influenced by early life challenges. Our previous research has revealed that the consumption of a high-fat diet (HFD) by pregnant and lactating rats leads to the programming of HPA axis activity in male offspring of the first generation (referred to as F1HFD/C).
Leptin, but not Estradiol, Signaling in PACAP Neurons Modulates Puberty Onset
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The adipose-derived hormone leptin critically modulates reproductive function, such that its absence results in hypothalamic hypogonadism. Pituitary adenylate cyclase-activating polypeptide (PACAP)-expressing neurons are potential mediators of leptin's action on the neuroendocrine reproductive axis because they are leptin-sensitive and involved in both feeding behavior and reproductive function.
The Journal of Clinical Endocrinology & Metabolism
Serum IGF-1 to IGFBP-3 Molar Ratio: A Promising Diagnostic Tool for Growth Hormone Deficiency in Children
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The serum insulin-like growth factor-1 (IGF-1)/insulin-like growth factor binding protein-3 (IGFBP-3) ratio has various potential applications in growth hormone-related disorders. This study aimed to investigate the performance of the IGF-1/IGFBP-3 ratio, independently and in combination with serum IGF-1 and IGFBP-3, in the diagnosis of growth hormone deficiency (GHD) in children with short stature (SS).
Novel MKRN3 Missense Mutations Associated With Central Precocious Puberty Reveal Distinct Effects on Ubiquitination
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Loss-of-function mutations in the maternally imprinted genes, MKRN3 and DLK1, are associated with central precocious puberty (CPP). Mutations in MKRN3 are the most common known genetic etiology of CPP. This work aimed to screen patients with CPP for MKRN3 and DLK1 mutations and analyze the effects of identified mutations on protein function in vitro.
The Association of Accelerated Early Growth, Timing of Puberty, and Metabolic Consequences in Children
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Accelerated early growth and early timing of puberty or pubertal variant have been noticed as risk factors for metabolic syndrome, more frequently observed in children born small for gestational age (SGA) or children with premature adrenarche (PA). Children with SGA, especially if they make an accelerated catch-up growth in early life, carry a higher risk for long-term metabolic consequences, such as type 2 diabetes, insulin resistance, and cardiovascular diseases.