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Current Trends in Pediatric Endocrinology

A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Clinical Pediatrics".

Deadline for manuscript submissions: closed (15 October 2024) | Viewed by 3355

Special Issue Editor


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Guest Editor
Department Hospital of Woman and Child, Pediatric Unit, IRCCS AOU di Bologna Policlinico di S.Orsola, 40138 Bologna, Italy
Interests: pediatric thyroid disease; pediatric rickets; adrenal insufficiency in children; diabetes in children; pediatric endocrinology

Special Issue Information

Dear Colleagues,

Over the last few years, progress in research on the field of pediatric endocrinology has been impressive. In particular, in the field of bone pathology (achondroplasia, XLH) new and promising therapeutic treatments have become concretely available which were unthinkable until a few decades ago. Owing to the increased availability and reduced costs of targeted NGS panels, it has been possible to genetically characterize the etiology of some forms of short stature, severe obesity, precocious puberty and congenital hypothyroidism.

However, some topics remain popular in other sectors due to the management in the real world of the rarest conditions, such as primary adrenal insufficiency, congenital adrenal hyperplasia (CAH), rarer differences of sex development (DSD), among others. Solutions to these issues can be contributed, at least in part, by large international networks and pathology registries that have become increasingly  legitimate in the last 10 years.

The international debate is still lively regarding the methods of practical implementation for newborn screenings of some endocrinopathies and their corresponding prenatal therapies such as CAH. This is mainly due to the lack of diagnostic and therapeutic pathways that have been validated at national and international levels.

Finally, severe obesity in children, especially with an early onset, has become a difficult diagnostic and therapeutic task for pediatric endocrinologists for decades, without effective therapeutic solutions except for metformin and insulin, which are used in cases of insulin resistance/ diabetes. Nowadays GLP-1 agonists have become available and sometimes used even in children and adolescents with more severe obesity. However, is it already possible to appreciate their effectiveness in the real world?

This Special Issue aims to highlight some of the most interesting topics of pediatric endocrinology that perhaps less discussed in order to bring out an exciting scientific discussion and attempt to improve the outcomes of patients.

Dr. Federico Baronio
Guest Editor

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Keywords

  • short stature
  • congenital adrenal hyperplasia
  • Hypothyroidism
  • obesity
  • bone pathology
  • rickets
  • differences of sex development
  • registries
  • NGS panels
  • precocious puberty
  • GLP-1 agonists

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Published Papers (2 papers)

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Research

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11 pages, 252 KiB  
Article
A Therapeutic Proposal for Mini-Puberty in Male Infants with Hypogonadotropic Hypogonadism: A Retrospective Case Series
by María Aurora Mesas-Aróstegui, Fidel Hita-Contreras and Juan Pedro López-Siguero
J. Clin. Med. 2024, 13(22), 6983; https://doi.org/10.3390/jcm13226983 - 20 Nov 2024
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Abstract
Background: Male patients with congenital hypogonadotropic hypogonadism (CHH) have impaired postnatal activation of the hypothalamic–pituitary–gonadal axis that occurs during mini-puberty. The aim of this study was to report our experience using gonadotropin replacement therapy for mini-puberty in male infants with CHH and to [...] Read more.
Background: Male patients with congenital hypogonadotropic hypogonadism (CHH) have impaired postnatal activation of the hypothalamic–pituitary–gonadal axis that occurs during mini-puberty. The aim of this study was to report our experience using gonadotropin replacement therapy for mini-puberty in male infants with CHH and to establish treatment recommendations. Methods: The patients included in this retrospective case series (n = 9) were diagnosed in the postnatal period due to micropenis, with two being accompanied by cryptorchidism and four with other associated hormonal deficits. All patients started treatment with gonadotropins early after diagnosis, between 2 weeks and 5 months of age, with a schedule of discontinuous injections with subcutaneous human chorionic gonadotropin (62.5–500 IU) two times per week and recombinant follicle-stimulating hormone-alpha (37.5–75 IU) three times per week. Results: The data from our study show an early response, ranging from almost undetectable levels of testosterone at diagnosis to elevated levels after starting treatment, as well as a positive clinical response with increases in testicular volume and penis size in all cases without requiring complementary treatment with testosterone esters and without adverse effects. Conclusions: Our results show that gonadotropin replacement therapy is a well-tolerated and effective treatment for testicular and penile problems in male patients with CHH. Full article
(This article belongs to the Special Issue Current Trends in Pediatric Endocrinology)

Other

Jump to: Research

9 pages, 534 KiB  
Perspective
Proposed Screening for Congenital Hyperinsulinism in Newborns: Perspective from a Neonatal–Perinatal Medicine Group
by Jeffrey R. Kaiser, Shaili Amatya, Rebecca J. Burke, Tammy E. Corr, Nada Darwish, Chintan K. Gandhi, Adrienne Gasda, Kristen M. Glass, Mitchell J. Kresch, Sarah M. Mahdally, Maria T. McGarvey, Sara J. Mola, Yuanyi L. Murray, Katie Nissly, Nanyaly M. Santiago-Aponte, Jazmine C. Valencia and Timothy W. Palmer
J. Clin. Med. 2024, 13(10), 2953; https://doi.org/10.3390/jcm13102953 - 17 May 2024
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Abstract
This perspective work by academic neonatal providers is written specifically for the audience of newborn care providers and neonatologists involved in neonatal hypoglycemia screening. Herein, we propose adding a screen for congenital hyperinsulinism (CHI) by measuring glucose and ketone (i.e., β-hydroxybutyrate (BOHB)) concentrations [...] Read more.
This perspective work by academic neonatal providers is written specifically for the audience of newborn care providers and neonatologists involved in neonatal hypoglycemia screening. Herein, we propose adding a screen for congenital hyperinsulinism (CHI) by measuring glucose and ketone (i.e., β-hydroxybutyrate (BOHB)) concentrations just prior to newborn hospital discharge and as close to 48 h after birth as possible, at the same time that the mandated state Newborn Dried Blood Spot Screen is obtained. In the proposed protocol, we do not recommend specific metabolite cutoffs, as our primary objective is to simply highlight the concept of screening for CHI in newborns to newborn caregivers. The premise for our proposed screen is based on the known effect of hyperinsulinism in suppressing ketogenesis, thereby limiting ketone production. We will briefly discuss genetic CHI, other forms of neonatal hypoglycemia, and their shared mechanisms; the mechanism of insulin regulation by functional pancreatic islet cell membrane KATP channels; adverse neurodevelopmental sequelae and brain injury due to missing or delaying the CHI diagnosis; the principles of a good screening test; how current neonatal hypoglycemia screening programs do not fulfill the criteria for being effective screening tests; and our proposed algorithm for screening for CHI in newborns. Full article
(This article belongs to the Special Issue Current Trends in Pediatric Endocrinology)
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