Paediatric endocrinology

2021 ◽  
pp. 565-608
Author(s):  
Ken Ong ◽  
Emile Hendriks

This chapter covers paediatric endocrinology. It starts with normal growth, then goes on to short stature, and constitutional delay of growth and puberty. Primary and secondary growth hormone deficiency are then explained, and treatment is outlined alongside GH resistance. It goes on to hypothyroidism, coeliac disease, skeletal dysplasias, and Turner syndrome. Small gestational age, and tall stature and rapid growth are all covered, alongside normal puberty, precocious puberty, and delayed or absent puberty. Normal sexual differentiation and disorders of sexual development and the assessment of ambiguous genitalia are included.

2012 ◽  
Vol 11 (2) ◽  
pp. 129
Author(s):  
Bianca Costa Mota ◽  
Caio Rapôso Leão ◽  
Luciana Mattos Barros Oliveira ◽  
Maria Betânia Toralles

<!--[if gte mso 9]><xml> <w:WordDocument> <w:View>Normal</w:View> <w:Zoom>0</w:Zoom> <w:HyphenationZone>21</w:HyphenationZone> <w:PunctuationKerning /> <w:ValidateAgainstSchemas /> <w:SaveIfXMLInvalid>false</w:SaveIfXMLInvalid> <w:IgnoreMixedContent>false</w:IgnoreMixedContent> <w:AlwaysShowPlaceholderText>false</w:AlwaysShowPlaceholderText> <w:Compatibility> <w:BreakWrappedTables /> <w:SnapToGridInCell /> <w:WrapTextWithPunct /> <w:UseAsianBreakRules /> <w:DontGrowAutofit /> </w:Compatibility> <w:BrowserLevel>MicrosoftInternetExplorer4</w:BrowserLevel> </w:WordDocument> </xml><![endif]--><!--[if gte mso 9]><xml> <w:LatentStyles DefLockedState="false" LatentStyleCount="156"> </w:LatentStyles> </xml><![endif]--><!--[if !mso]><object classid="clsid:38481807-CA0E-42D2-BF39-B33AF135CC4D" id=ieooui></object> <style> st1\:*{behavior:url(#ieooui) } </style> <![endif]--><!--[if gte mso 10]> <style> /* Style Definitions */ table.MsoNormalTable {mso-style-name:"Tabela normal"; mso-tstyle-rowband-size:0; mso-tstyle-colband-size:0; mso-style-noshow:yes; mso-style-parent:""; mso-padding-alt:0cm 5.4pt 0cm 5.4pt; mso-para-margin:0cm; mso-para-margin-bottom:.0001pt; mso-pagination:widow-orphan; font-size:10.0pt; font-family:"Times New Roman"; mso-ansi-language:#0400; mso-fareast-language:#0400; mso-bidi-language:#0400;} </style> <![endif]--> <p class="MsoNormal" style="margin: 0cm 22.7pt 0.0001pt; text-align: justify;"><strong><span style="font-size: 8pt;">Introdução:</span></strong><span style="font-size: 8pt;"> Os Distúrbios do Desenvolvimento Sexual (DDS) resultam de uma interação anormal de fatores genéticos e hormonais implicados no desenvolvimento embrionário da determinação e diferenciação sexual. Os indivíduos com cariótipo 46, XY que apresentaram virilização deficiente da genitália externa são classificados como tendo um quadro sindrômico de Distúrbio do Desenvolvimento Sexual (46, XY DDS), incluindo entre esses a Síndrome da Insensibilidade Androgênica (AIS). Vários genes já foram reconhecidos por sua participação na formação das gônadas e genitálias (interna e externa) entre eles o gene do Receptor de Andrógenos (AR). <strong>Objetivo:</strong> Analisar os aspectos sócio-epidemiológicos e clínicos de indivíduos com diagnóstico sindrômico de 46, XY Distúrbio do Desenvolvimento Sexual (46,XY DDS) matriculados no Ambulatório de Genética (C-HUPES-UFBA). <strong>Metodologia:</strong> 13 pacientes com 46, XY DDS e suspeita diagnóstica de AIS, foram selecionados para se traçar o perfil clínico e epidemiológico. <strong>Resultados:</strong> Entre os pacientes estudados, 07 foram diagnosticados como PAIS e 06 como CAIS, tendo como o sexo de criação, respectivamente, o masculino e o feminino; a média de idade na primeira consulta foi de 06 anos. Cerca de 38% apresentavam história familiar positiva. O motivo de encaminhamento mais frequente foi hipospádia e genitália ambígua. A média do comprimento do falus foi de 2,77 cm. A localização mais comum das gônadas foi na bolsa escrotal. Apenas dois pacientes apresentaram mais de um orifício perineal. Dois pacientes fizeram tratamento medicamentoso e dez foram submetidos à cirurgia corretiva da genitália. <strong>Conclusão:</strong> Na população estudada o diagnóstico foi mais tardio, isso requer ações sócio-educativas nessa região para incentivar o rápido encaminhamento dos pacientes para diagnóstico e tratamento precoce.</span></p> <p class="MsoNormal" style="margin: 0cm 22.7pt 0.0001pt; text-align: justify;"><span style="font-size: 8pt; color: black;" lang="EN-US"> </span></p> <p class="MsoNormal" style="margin: 0cm 22.7pt 0.0001pt; text-align: justify;"><strong><span style="font-size: 8pt; color: black;" lang="EN-US">Abstract</span></strong><strong></strong></p> <p class="MsoNormal" style="margin: 0cm 22.7pt 0.0001pt; text-align: justify;"><strong><span style="font-size: 8pt;" lang="EN-US">Introduction:</span></strong><span style="font-size: 8pt;" lang="EN-US"> Disorders of Sexual Development (DSD) result from an abnormal interaction of genetic and hormonal factors involved in determining embryonic development and sexual differentiation. Individuals with 46, XY karyotype who presented deficient virilization of the external genitalia are classified as having a syndrome of Sexual Development Disorder (46, XY DSD), including those between Androgen Insensitivity Syndrome (AIS). Several genes have been recognized for their participation in the formation of gonads and genitalia (internal and external) including the gene Androgen Receptor (AR). <strong>Objective</strong>: The aim of this study is to analyze the socio-epidemiological and clinical syndromic diagnosis of individuals with 46, XY disorders of sexual development (46, XY DSD) enrolled in the Genetics Clinic (C-HUPES-UFBA). <strong>Methods</strong>: we selected 13 patients with clinical diagnosis of AIS and traced the clinical and epidemiological profile. <strong>Results</strong>: Among the patients studied, 07 were diagnosed as CAIS and 06 as PAIS, and with the sex of rearing, respectively, the male and female and the average age at diagnosis was 06 years. About 38% had a positive family history. The most common reason for referral was hypospadias and ambiguous genitalia. The average length of falus was 2.77 cm. The most common location was the gonads in the scrotum. Only two patients had more than one hole perineal. Two patients received drug treatment and ten underwent corrective surgery of the genitalia. <strong>Conclusion</strong>:<span>  </span>In this study population were diagnosed later, this requires social and educational actions in the region to encourage the rapid referral of patients for early diagnosis and treatment.</span></p>


1970 ◽  
Vol 11 (1) ◽  
pp. 63-66
Author(s):  
Md Robed Amin ◽  
Amit Das ◽  
Md Murad Hossain ◽  
Md Ferdous Zaman ◽  
Ahmedul Kabir ◽  
...  

Patients with disorders of sexual differentiation possess discordance among sex chromosomes, gonads, sex hormones, and phenotypic sex. The most common of the phenotypic sex disorder is due to defect in enzyme for synthesis of steroids in adrenal cortex. A spectrum of phenotypes is observed in these cases. Here we present a case with features of female reproductive system in his body with male phenotype. As there was no trace of male sexual organs in all investigations but physical habitus was exclusively male with abundance of hair distribution the case was diagnosed as disorder of sex development (DSD) - female pseodoharmaphroditism. Keywords: Sex Differentiation Disorder, Disorders of Sexual Development, Pseudohermaphroditism DOI:10.3329/jom.v11i1.4276 J Medicine 2010: 11: 63-66


Author(s):  
Michael J. Mcphaul ◽  
Richard J. Auchus

Sexual differentiation is a sequential process that begins at fertilization with the establishment of chromosomal sex, continues with the determination of gonadal sex, and culminates in the development of secondary sexual characteristics that comprise the male and female phenotypes. This basic paradigm was formulated by Alfred Jost to explain the results of castration experiments in fetal rabbits. If the gonads (ovaries or testes) were removed before sexual differentiation, female sexual differentiation inevitably ensued. The male pathway could be partly restored by testosterone implants, suggesting that hormones produced by the testes mediate male sexual development. Thus, the concept arose that the testes induce a male pattern of differentiation on an embryo that otherwise would follow the female pathway. Cytogenetic studies shortly thereafter showed that the critical genetic determinant of sex is the presence or absence of the Y chromosome, leading to the proposal that the Y chromosome directs the gonad to differentiate into a testis, which then produces hormone(s) that cause male sexual differentiation. The chromosomal sex of the embryo generally corresponds to its phenotypic sex. Occasionally, however, the process of sexual differentiation goes awry, resulting in individuals with disorders of sexual differentiation (DSD). Clinically recognized disorders of sexual development occur at many levels, ranging from relatively common disorders in the terminal steps of male differentiation (e.g., testicular descent, growth of the penis) to more fundamental abnormalities that lead to varying degrees of ambiguity of phenotypic sex. Although most of these abnormalities impair reproduction, they usually are not life threatening. Thus, humans and experimental animals with naturally occurring defects in sexual differentiation survive to reach the attention of physicians and scientists. This chapter reviews the sequence of events in normal sexual development and describes disorders of this process — many of which result from single-gene mutations — that have provided valuable insights into the mechanisms of sexual differentiation. Normally, human somatic cells have 22 pairs of autosomes and 1 pair of sex chromosomes.


Neonatology ◽  
2017 ◽  
pp. 1-25
Author(s):  
Antonio Balsamo ◽  
Paolo Ghirri ◽  
Silvano Bertelloni ◽  
Rosa T. Scaramuzzo ◽  
Franco D’Alberton ◽  
...  

Author(s):  
Timothy F. Murphy

People with intersex conditions have male-typical and female-typical traits, to varying degrees in genetics and anatomy. Because of these variations, people with intersex conditions or disorders of sexual development can face difficulties related to their identities and relationships. As a matter of ethics, clinicians should exhibit humane behavior toward patients of all ages as they explore the meaning of their intersex condition for their health and well-being. Clinicians can also help families understand the meaning of that condition for their children and themselves. Clinicians will also have responsibilities toward child, adolescent, and adult patients bearing on the psychological effects of body modifications taken to normalize their sexual appearance. In addition, clinicians will have the responsibility to address the effects of body modifications hoped for by the patient. Observance of confidentiality is key in relationships with intersex patients.


Author(s):  
Merter Keçeli

AbstractAmbiguous genitalia is a common feature in most disorders of sexual development. These disorders can be evaluated within three groups: sex chromosome disorders, 46,XY disorders, and 46,XX disorders. Except for Turner's syndrome, these anomalies are not related to neurological developmental anomalies. A 6-month-old patient presenting with ambiguous genitalia had developmental and motor retardation with nystagmus. In karyotype analysis, 45,X/46,XY sequences were found, compatible with mixed gonadal dysgenesis (GD). Laboratory findings were normal except for low serum total testosterone level. The uterus and left adnexal structures were seen in imaging. There were no gonads in the labial/scrotal regions. Septooptic dysplasia (SOD) and Joubert's syndrome (JS) were detected in cranial magnetic resonance imaging. This presentation reports rare association of SOD and JS in a child with mixed GD.


Genes ◽  
2022 ◽  
Vol 13 (1) ◽  
pp. 137
Author(s):  
Tatyana Markova ◽  
Vladimir Kenis ◽  
Evgeniy Melchenko ◽  
Darya Osipova ◽  
Tatyana Nagornova ◽  
...  

The significant variability in the clinical manifestations of COL2A1-associated skeletal dysplasias makes it necessary to conduct a clinical and genetic analysis of individual nosological variants, which will contribute to improving our understanding of the pathogenetic mechanisms and prognosis. We presented the clinical and genetic characteristics of 60 Russian pediatric patients with type II collagenopathies caused by previously described and newly identified variants in the COL2A1 gene. Diagnosis confirmation was carried out by new generation sequencing of the target panel with subsequent validation of the identified variants using automated Sanger sequencing. It has been shown that clinical forms of spondyloepiphyseal dysplasias predominate in childhood, both with more severe clinical manifestations (58%) and with unusual phenotypes of mild forms with normal growth (25%). However, Stickler syndrome, type I was less common (17%). In the COL2A1 gene, 28 novel variants were identified, and a total of 63% of the variants were found in the triple helix region resulted in glycine substitution in Gly-XY repeats, which were identified in patients with clinical manifestations of congenital spondyloepiphyseal dysplasia with varying severity, and were not found in Stickler syndrome, type I and Kniest dysplasia. In the C-propeptide region, five novel variants leading to the development of unusual phenotypes of spondyloepiphyseal dysplasia have been identified.


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