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Endocrines
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Genetics in Pediatric Endocrinology
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Genetics in Pediatric Endocrinology

A special issue of Endocrines (ISSN 2673-396X). This special issue belongs to the section "Pediatric Endocrinology and Growth Disorders".

Deadline for manuscript submissions: closed (15 February 2022) | Viewed by 59216

Special Issue Editors

Prof. Dr. Shibani Kanungo

E-Mail Website
Guest Editor
School of Medicine, Western Michigan University Homer Stryker MD, Kalamazoo, MI, USA
Interests: inborn errors of metabolism; newborn screening; genetics; ethics
Prof. Dr. Martin B Draznin

E-Mail Website
Guest Editor
School of Medicine, Western Michigan University Homer Stryker MD, Kalamazoo, MI, USA
Interests: pediatric endocrinology; newborn screening

Special Issue Information

Dear Colleagues,

Over the last half century, our knowledge and understanding of pediatric endocrine disorders have evolved significantly. With advances in molecular technology and newborn screening, many of these disorders can be identified prior to the onset of symptoms, allowing treatment to mitigate or prevent the onset of irreversible neurocognitive damage, disability, or even sudden death. With such advances, a need for blended learning of pediatric endocrinology with genetics and inherited disorders seems crucial.

This issue will address numerous endocrine systems, their regulation in health at a genetic level, and the effects of errors of gene structure and/or regulation to lead to disordered endocrine function. Understanding of the genetic mechanisms of healthy development and function of endocrine cells, organs, and systems has advanced our knowledge of etiology, furthering the development of specific diagnostic and targeted therapeutic tools. Understanding genetic implications of inherited disorders can help to prevent disease progression or affect treatment of other family members and even offspring. Newborn endocrine screening has helped to further enhance the role of enzymes in identifying other ‘choke points’ in hormone synthesis pathways at a molecular level. The large influence of abnormal endocrine function in genetic disorders such as Prader–Willi syndrome and Turner syndrome will also be discussed.

This Special Issue of Endocrines welcomes comprehensive reviews highlighting the role of genetics in pediatric endocrinology.

Prof. Dr. Shibani Kanungo
Prof. Dr. Martin B Draznin
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Endocrines is an international peer-reviewed open access quarterly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 1000 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • pediatric endocrinology
  • genetics
  • newborn screening
  • growth
  • puberty
  • sexual differentiation
  • diabetes
  • thyroid
  • adrenals
  • bone metabolism

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Published Papers (11 papers)

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Editorial

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2 pages, 169 KiB  
Editorial
Special Issue “Genetics in Pediatric Endocrinology”
by Martin B. Draznin and Shibani Kanungo
Endocrines 2022, 3(4), 601-602; https://doi.org/10.3390/endocrines3040051 - 7 Oct 2022
Viewed by 1226
Abstract
The inception of pediatric endocrinology in the United States began little less than a century ago, but it has grown as a subspecialty field since the 1950s [...] Full article
(This article belongs to the Special Issue Genetics in Pediatric Endocrinology)

Review

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19 pages, 795 KiB  
Review
The Role of Genetics in Central Precocious Puberty: Confirmed and Potential Neuroendocrine Genetic and Epigenetic Contributors and Their Interactions with Endocrine Disrupting Chemicals (EDCs)
by Andrea Mucci and Ethel Clemente
Endocrines 2022, 3(3), 433-451; https://doi.org/10.3390/endocrines3030035 - 25 Jul 2022
Cited by 4 | Viewed by 3748
Abstract
Despite the growing prevalence of central precocious puberty (CPP), most cases are still diagnosed as “idiopathic” due to the lack of identifiable findings of other diagnostic etiology. We are gaining greater insight into some key genes affecting neurotransmitters and receptors and how they [...] Read more.
Despite the growing prevalence of central precocious puberty (CPP), most cases are still diagnosed as “idiopathic” due to the lack of identifiable findings of other diagnostic etiology. We are gaining greater insight into some key genes affecting neurotransmitters and receptors and how they stimulate or inhibit gonadotropin-releasing hormone (GnRH) secretion, as well as transcriptional and epigenetic influences. Although the genetic contributions to pubertal regulation are more established in the hypogonadotropic hypogonadism (HH) literature, cases of CPP have provided the opportunity to learn more about its own genetic influences. There have been clinically confirmed cases of CPP associated with gene mutations in kisspeptin and its receptor (KISS1, KISS1R), Delta-like noncanonical Notch ligand 1 (DLK1), and the now most commonly identified genetic cause of CPP, makorin ring finger protein (MKRN3). In addition to these proven genetic causes, a number of other candidates continue to be evaluated. After reviewing the basic clinical aspects of puberty, we summarize what is known about the various genetic and epigenetic causes of CPP as well as discuss some of the potential effects of endocrine disrupting chemicals (EDCs) on some of these processes. Full article
(This article belongs to the Special Issue Genetics in Pediatric Endocrinology)
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20 pages, 1434 KiB  
Review
A Review of Prader–Willi Syndrome
by Stephen Szabadi, Zachary Sila, John Dewey, Dustin Rowland, Madhuri Penugonda and Berrin Ergun-Longmire
Endocrines 2022, 3(2), 329-348; https://doi.org/10.3390/endocrines3020027 - 7 Jun 2022
Cited by 3 | Viewed by 6318
Abstract
Prader–Willi Syndrome (PWS, OMIM #176270) is a rare complex genetic disorder due to the loss of expression of paternally derived genes in the PWS critical region on chromosome 15q11-q13. It affects multiple neuroendocrine systems and may present failure to thrive in infancy, but [...] Read more.
Prader–Willi Syndrome (PWS, OMIM #176270) is a rare complex genetic disorder due to the loss of expression of paternally derived genes in the PWS critical region on chromosome 15q11-q13. It affects multiple neuroendocrine systems and may present failure to thrive in infancy, but then, hyperphagia and morbid obesity starting in early childhood became the hallmark of this condition. Short stature, hypogonadism, sleep abnormalities, intellectual disability, and behavioral disturbances highlight the main features of this syndrome. There have been a significant number of advances in our understanding of the genetic mechanisms underlying the disease, especially discoveries of MAGEL2, NDN, MKRN3, and SNORD116 genes in the pathophysiology of PWS. However, early diagnosis and difficulty in treating some of the disease’s most disabling features remain challenging. As our understanding of PWS continues to grow, so does the availability of new therapies and management strategies available to clinicians and families. Full article
(This article belongs to the Special Issue Genetics in Pediatric Endocrinology)
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16 pages, 1072 KiB  
Review
Genetics of Thyroid Disorders
by Irina Gavryutina, Lawrence Fordjour and Vivian L. Chin
Endocrines 2022, 3(2), 198-213; https://doi.org/10.3390/endocrines3020018 - 13 Apr 2022
Cited by 1 | Viewed by 6304
Abstract
Thyroid diseases in children and adolescents include acquired or congenital conditions, including genetic disorders either isolated or part of a syndrome. Briefly, we will review the physiology and pathophysiology of the thyroid gland and its disorders. The aim of this chapter is to [...] Read more.
Thyroid diseases in children and adolescents include acquired or congenital conditions, including genetic disorders either isolated or part of a syndrome. Briefly, we will review the physiology and pathophysiology of the thyroid gland and its disorders. The aim of this chapter is to describe genetic abnormalities of the thyroid gland. Full article
(This article belongs to the Special Issue Genetics in Pediatric Endocrinology)
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11 pages, 293 KiB  
Review
An Update on Genetics of Adrenal Gland and Associated Disorders
by Chester Gauss, Dustin Rowland and Berrin Ergun-Longmire
Endocrines 2022, 3(2), 187-197; https://doi.org/10.3390/endocrines3020017 - 13 Apr 2022
Viewed by 2874
Abstract
The intricacies of human adrenal development have been under scrutiny for decades. Each year marks the identification of new genes and new interactions between gene products that ultimately will act to produce the fully functioning adult gland. Due to the complexity of this [...] Read more.
The intricacies of human adrenal development have been under scrutiny for decades. Each year marks the identification of new genes and new interactions between gene products that ultimately will act to produce the fully functioning adult gland. Due to the complexity of this process, genetic missteps may lead to a constellation of pathologies. Recent years have identified several novel genetic causes of adrenal dysgenesis and provided new insights into previously delineated processes. SF1, DAX1 (NR0B1), CDKN1C, SAMD9, GLI3, TPIT, MC2R, MRAP, NNT, TXNRD2, AAAS, and MCM4 are among the genes which have had significant contributions to our understanding of the development and function of both adrenals and gonads. Collection and elucidation of these genetic and clinical insights are valuable tools for clinicians who diagnose and manage cases of adrenal dysfunction. Full article
(This article belongs to the Special Issue Genetics in Pediatric Endocrinology)
18 pages, 6047 KiB  
Review
Genetic Disorders of Calcium and Phosphorus Metabolism
by Assia Miller, Serina Mathew, Sneha Patel, Lawrence Fordjour and Vivian L. Chin
Endocrines 2022, 3(1), 150-167; https://doi.org/10.3390/endocrines3010014 - 17 Mar 2022
Cited by 3 | Viewed by 9310
Abstract
In this review, we describe genetic mutations affecting metabolic pathways of calcium and phosphorus homeostasis. Calcium and phosphorus homeostasis has tight hormonal regulation by three major hormones: vitamin D, parathyroid hormone (PTH) and fibroblast growth factor 23 (FGF23). We describe the physiology and [...] Read more.
In this review, we describe genetic mutations affecting metabolic pathways of calcium and phosphorus homeostasis. Calcium and phosphorus homeostasis has tight hormonal regulation by three major hormones: vitamin D, parathyroid hormone (PTH) and fibroblast growth factor 23 (FGF23). We describe the physiology and pathophysiology of disorders, their biochemical profile, clinical characteristics, diagnostics, and treatments. Full article
(This article belongs to the Special Issue Genetics in Pediatric Endocrinology)
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8 pages, 237 KiB  
Review
Newborn Screening in Pediatric Endocrine Disorders
by Martin Draznin, Preeti Borgohain and Shibani Kanungo
Endocrines 2022, 3(1), 107-114; https://doi.org/10.3390/endocrines3010010 - 15 Mar 2022
Viewed by 3566
Abstract
Two endocrine disorders, congenital hypothyroidism (CH) and congenital adrenal hyperplasia (CAH), when untreated, can have devastating, irreversible and fatal outcomes. Permanent cognitive impairment, growth failure and dysmorphic appearance are seen in congenital hypothyroidism (CH) and early infant death in males with salt wasting [...] Read more.
Two endocrine disorders, congenital hypothyroidism (CH) and congenital adrenal hyperplasia (CAH), when untreated, can have devastating, irreversible and fatal outcomes. Permanent cognitive impairment, growth failure and dysmorphic appearance are seen in congenital hypothyroidism (CH) and early infant death in males with salt wasting CAH (as most females are discovered by presence of atypical genital appearance, while males appeared normal). Newborn screening (NBS) for CH was developed with broader engagement of centers, and was more rapidly adopted throughout the US and other large or developed countries, while NBS for CAH was pioneered by relatively few and was not fully adopted in the US until the initiation of Universal Expanded Newborn Screening Panel in 2005. Advances in genetic understanding of CH and CAH continue with NBS. Cost–benefit analysis, showing CH NBS as more successful than CAH NBS, may not fully recognize the cost of a life saved with CAH NBS. Early treatment of CH is much simpler with taking a pill a day unlike CAH requiring multiple medication doses, and possibly surgery apart from enteral and parenteral stress doses during adrenal crisis. CAH management outcomes with gender identity matters in persons with atypical genital appearance and androgen effects are still being studied. Full article
(This article belongs to the Special Issue Genetics in Pediatric Endocrinology)
16 pages, 355 KiB  
Review
Multiple Endocrine Neoplasia in Childhood: An Update on Diagnosis, Screening, Management and Treatment
by Marianne Jacob, Dustin Rowland, Oksana Lekarev and Berrin Ergun-Longmire
Endocrines 2022, 3(1), 76-91; https://doi.org/10.3390/endocrines3010007 - 17 Feb 2022
Cited by 3 | Viewed by 3918
Abstract
Multiple endocrine neoplasia (MEN) is a group of heterogenous syndromes characterized by the occurrence of two or more endocrine gland tumors in a patient or related individuals in the same family. They are inherited in an autosomal dominant fashion and are highly penetrant. [...] Read more.
Multiple endocrine neoplasia (MEN) is a group of heterogenous syndromes characterized by the occurrence of two or more endocrine gland tumors in a patient or related individuals in the same family. They are inherited in an autosomal dominant fashion and are highly penetrant. There are three types of MEN syndromes: MEN type 1 (MEN1), MEN type 2 (MEN2), and MEN type 4 (MEN4). MEN2 is further divided into MEN2A, MEN2B (formerly known MEN3), and familial medullary thyroid carcinoma (FMTC). Although MEN syndromes are rare, it is crucial to identify individuals at risk for potentially life-threatening neoplasias. This review article provides an update on each MEN syndrome, its genetics, diagnosis, and management in children. Full article
(This article belongs to the Special Issue Genetics in Pediatric Endocrinology)
15 pages, 630 KiB  
Review
Genetic Etiology of Idiopathic Hypogonadotropic Hypogonadism
by Ali Kemal Topaloglu and Ihsan Turan
Endocrines 2022, 3(1), 1-15; https://doi.org/10.3390/endocrines3010001 - 24 Dec 2021
Cited by 4 | Viewed by 4035
Abstract
Idiopathic hypogonadotropic hypogonadism (IHH) is a group of rare developmental disorders characterized by low gonadotropin levels in the face of low sex steroid hormone concentrations. IHH is practically divided into two major groups according to the olfactory function: normal sense of smell (normosmia) [...] Read more.
Idiopathic hypogonadotropic hypogonadism (IHH) is a group of rare developmental disorders characterized by low gonadotropin levels in the face of low sex steroid hormone concentrations. IHH is practically divided into two major groups according to the olfactory function: normal sense of smell (normosmia) nIHH, and reduced sense of smell (hyposmia/anosmia) Kallmann syndrome (KS). Although mutations in more than 50 genes have been associated with IHH so far, only half of those cases were explained by gene mutations. Various combinations of deleterious variants in different genes as causes of IHH have been increasingly recognized (Oligogenic etiology). In addition to the complexity of inheritance patterns, the spontaneous or sex steroid-induced clinical recovery from IHH, which is seen in approximately 10–20% of cases, blurs further the phenotype/genotype relationship in IHH, and poses challenging steps in new IHH gene discovery. Beyond helping for clinical diagnostics, identification of the genetic mutations in the pathophysiology of IHH is hoped to shed light on the central governance of the hypothalamo-pituitary-gonadal axis through life stages. This review aims to summarize the genetic etiology of IHH and discuss the clinical and physiological ramifications of the gene mutations. Full article
(This article belongs to the Special Issue Genetics in Pediatric Endocrinology)
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17 pages, 750 KiB  
Review
Maturity-Onset Diabetes of the Young (MODY): Genetic Causes, Clinical Characteristics, Considerations for Testing, and Treatment Options
by Zoltan Antal
Endocrines 2021, 2(4), 485-501; https://doi.org/10.3390/endocrines2040043 - 3 Dec 2021
Cited by 9 | Viewed by 11656
Abstract
Maturity Onset Diabetes of the Young (MODY) encompasses a group of rare monogenic forms of diabetes distinct in etiology and clinical presentation from the more common forms of Type 1 (autoimmune) and Type 2 diabetes. Since its initial description as a clinical entity [...] Read more.
Maturity Onset Diabetes of the Young (MODY) encompasses a group of rare monogenic forms of diabetes distinct in etiology and clinical presentation from the more common forms of Type 1 (autoimmune) and Type 2 diabetes. Since its initial description as a clinical entity nearly 50 years ago, the underlying genetic basis for the various forms of MODY has been increasingly better elucidated. Clinically, the diagnosis may be made in childhood or young adulthood and can present as overt hyperglycemia requiring insulin therapy or as a subtle form of slowly progressive glucose impairment. Due to the heterogeneity of clinical symptoms, patients with MODY may be misdiagnosed as possessing another form of diabetes, resulting in potentially inappropriate treatment and delays in screening of affected family members and associated comorbidities. In this review, we highlight the various known genetic mutations associated with MODY, clinical presentation, indications for testing, and the treatment options available. Full article
(This article belongs to the Special Issue Genetics in Pediatric Endocrinology)
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Other

Jump to: Editorial, Review

8 pages, 896 KiB  
Case Report
Diagnosis of Chromosome 15q-Terminal Deletion Syndrome through Elevated Fasting Serum Growth Hormone Levels
by Masato Ono, Masato Tanaka, Shota Hiroshima, Kentaro Sawano, Yohei Ogawa, Keisuke Nagasaki and Akihiko Saitoh
Endocrines 2022, 3(1), 92-99; https://doi.org/10.3390/endocrines3010008 - 23 Feb 2022
Viewed by 4472
Abstract
Chromosome 15q26-qter deletion syndrome is a rare disease that causes prenatal and postnatal growth retardation, microcephaly, developmental delay, and congenital heart diseases, mainly due to haploinsufficiency of IGF1R. In addition, patients with pathogenic variants of the IGF1R show similar symptoms. We report [...] Read more.
Chromosome 15q26-qter deletion syndrome is a rare disease that causes prenatal and postnatal growth retardation, microcephaly, developmental delay, and congenital heart diseases, mainly due to haploinsufficiency of IGF1R. In addition, patients with pathogenic variants of the IGF1R show similar symptoms. We report the case of a 5-month-old girl with prenatal and postnatal growth retardation, microcephaly, and congenital heart disease. At 5 months of age, her length was 54.7 cm (−4.3 SD), her weight was 4.4 kg (−3.1 SD), and her head circumference was 37.4 cm (−2.8 SD), thus presenting severe growth retardation. Repeated pre-feeding serum GH levels were abnormally high (26.1–85.5 ng/mL), and IGF-1 levels (+0.16 to +1.2 SD) were relatively high. The 15q sub-telomere fluorescence in situ hybridization analysis revealed a heterozygous deletion in the 15q terminal region. Whole-genome single nucleotide polymorphism microarray analysis showed a terminal deletion of 6.4 Mb on 15q26.2q26.3. This is the first report showing that fasting GH levels are high in early infancy in patients with IGF1R abnormalities. In addition to relatively high IGF-1 levels, elevated fasting GH levels in early infancy may contribute to the diagnosis of IGF1R abnormalities. Full article
(This article belongs to the Special Issue Genetics in Pediatric Endocrinology)
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