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تم العثور علي : 6
 تم العثور علي : 6
  
 
إعادة البحث

Thesis 2105.
Abd el maksoud, Fatma Mohamed.
685 الجلود و الفراء و المنتجات ذات الصلة  
Animals
تصفح الوعاء  

Thesis 2014
El Said,Eman Abd El Mouttalep
618 أمراض النساء والولادة والموضوعات ذات الصلة  
Disorders of Sexual Differentiation in Pediatrics
تصفح الوعاء  

Thesis 2014
El Said,Eman Abd El Mouttalep
618 أمراض النساء والولادة والموضوعات ذات الصلة  
Disorders of Sexual Differentiation in Pediatrics
تصفح الوعاء  

Thesis 2014
Disorders of Sexual Differentiation in Pediatrics: Psychological Aspects
Essay
Submitted for Partial Fulfillment of Master Degree in Pediatrics
By
Eman Abd El Mouttalep El Said
M.B.B.Ch., Ain Shams University
Under Supervision of
Prof. Dr/ Eman Amin Abd El Aziz
Professor of Pediatrics
Faculty of Medicine, Ain Shams University
Dr/ Alaa Youssef Ahmed Baioumi
Lecturer in Pediatrics
Faculty of Medicine, Ain Shams University
Faculty of Medicine
Ain Shams University
2014
Acknowledgment
First, thanks are all due to Allah for blessing this work until it has reached its end as a part of his generous help throughout my life.
I wish to express my thanks and profound gratitude to Professor Dr. Eman Amin Abd El Aziz, Professor of Pediatrics, Faculty of Medicine, Ain Shams University for her continuous supervision advice and fruitful criticism have been of great help in performing this work.
Also, I am deeply indebted to Dr. Alaa Youssef Ahmed Baioumi, Lecturer of Pediatrics, Faculty of Medicine, Ain Shams University for her valuable instructions, inspiring guidance and support throughout this work.
Finally, I would like to express my deepest gratitude to all my family who have all supported me during my work.
Eman Abd El Mouttalep El Said
List of Contents
Title Page No.
Introduction 1
Aim of the Work 3
Sexual Development and Differentiation 4
Genetic Sex 4
Gonadal Sex 11
Hormonal Secretions 15
Phenotypic Sex 19
Disorders of Sexual Differentiation 23
Definition 23
Incidence 25
Clinical presentations of DSD 26
Classification of DSD 27
(1) Sex chromosome DSDs 30
(2) 46,XY disorders of sex development (46, XYDSD) 33
(3) 46,XX disorders of sex development (46,XX DSD) 74
Investigation of DSD Patients 84
Psychological Aspects of DSD 91
Gender identity, gender role and sexual orientation 91
Gender variant and transgender 93
Gender dysphoria 94
Gender identity disorder (GID) 97
Factors affecting gender identity, gender role 98
Gender identity, gender role in DSDs 101
Psychological, sexual and behavioral problems in DSDs 114
Familial Stress and Psychological problems 118
Psychiatric evaluation of patients with DSD 119
List of Contents (Cont…)
Title Page No.
Management of DSD 126
The multidisciplinary team (MDT) 126
Treatment of (DSD) 137
(1) Gender Assignment 137
(2) Information Management 141
(3) Psychiatric treatment 144
(4) Hormonal Therapy 146
(5) Surgical Treatment 149
Satisfaction in DSD patients after treatment 159
Follow-up 162
DSD in Egypt 164
The frequency of DSD in Egypt 164
The frequency of DSD in other societies 165
Age of presentation 166
The common types of DSD in Egypt 167
The common presentation of DSD in Egypt 168
The common presentation of DSD in other societies 168
Consanguinity and family history 169
Sex of rearing in Egypt 169
Gender assignment in Egypt 170
Multidisciplinary team in Egypt 174
Summary and Conclusion 176
Recommendations 179
References 180
Arabic Summary
List of Tables
Table No. Title Page No.
Table (1): Proposed revised nomenclature 24
Table (2): Disorders of sexual development (New DSD nomenclature) 29
Table (3): The steps of sexual differentiation associated with Turner Syndrome 31
Table (4): The steps of sexual differentiation associated with Klinefelter Syndrome 32
Table (5): Phenotype of 46, XY subjects with StAR deficiency 49
Table (6): Phenotype of 46, XY patients with POR deficiency 51
Table (7): Phenotype of 46, XY subjects with 3-HSD type 2 deficiency 53
Table (8): Phenotype of 46, XY subjects with: Cytochrome P450 17α-hydroxylase and 17, 20-lyase deficiency 55
Table (9): Phenotype of 46, XY subjects with 17, 20 lyase deficiency 56
Table (10): Phenotype of 46, XY patients with 17-HSD 3 deficiency 58
Table (11): Phenotype of 46, XY subjects with 5-reductase 2 deficiency 61
Table (12): Phenotype of 46, XY subjects with complete androgen insensitivity syndrome 65
Table (13): Phenotype of 46, XY subjects with partial androgen insensitivity syndrome 66
Table (14): Phenotype of 46, XY subjects with complete form of Leydig cell hypoplasia 67
List of Tables (Cont…)
Table No. Title Page No.
Table (15): Phenotype of 46, XY subjects with partial form of Leydig cell hypoplasia 68
Table (16): The steps of sex differentiation associated with a Timing Defect 73
Table (17): A practical approach to ethical decision making (adapted from United Kingdom of Clinical Ethics Network (UKCEN) materials) 131
Table (18): Factors to be considered for gender assignment 139
List of Figures
Fig. No. Title Page No.
Fig. (1): The differentiation of the bipotential genital ridge into a testis and ovary. 6
Fig. (2): Differentiation of the female and male urogenital tracts. 8
Fig. (3): Formation of the male and female external genitalia. Development of the external genitalia during the bipotential stages through 7 weeks gestation 9
Fig. (4): Division of the cloaca and differentiation of the female lower genitourinary tract. 10
Fig. (5): Hormonal control of male sex differentiation. 16
Fig. (6): Biochemical pathways necessary for steroid hormone production 18
Fig. (7): Phenotypic differentiation of the external genitalia in female and male embryos. 21
Fig. (8): MGD (a) Note the right testis is fully descended in the scrotum; the left streak gonad is in the inguinal canal, and hypospadias and (b) the streak gonad is associated with the Fallopian tube and the epididymis 33
Fig. (9): Summary of the molecular events in sex determination indicating the genes in which molecular defects can cause gonadal disorders in humans 37
Fig. (10): Ovotesticular DSD 45
Fig. (11): Enzymatic defects that alter the normal synthesis of testosterone resulting in 46, XY DSD 46
Fig. (12): The external genital appearance of a 46, XY patient with POR deficiency 50
List of Figures (Cont…)
Fig. No. Title Page No.
Fig. (13): A 16-year-old patient with 17β-HSD-3 deficiency reared as a girl (before and after surgery) 57
Fig. (14): The external genital appearance of a patient with 5-AR deficiency 60
Fig. (15): Respective roles of (T) and (DHT) in sex differentiation 62
Fig. (16): (a) A patient with CAIS. Note a normal, tall and hairless female with normal breast development and scanty pubic hair and (b) note the feminine external genitalia, a very short and shallow utricle and two testicles in the labia 63
Fig. (17): Clinical photograph shows a micropenis with hypospadias. The scrotum is bifid with a midline cleft 71
Fig. (18): Medical photographs of patients suggestive of 46, XX disorders of sex differentiation (DSD) 75
Fig. (19): Steps of steroidogenesis 80
Fig. (20): Clinical photograph obtained in a newborn with CAH shows ambiguous genitalia 82
Fig. (21): Chart illustrates a diagnostic algorithm for the evaluation of children with ambiguous genitalia 90
Fig. (22): An overview of the multidisciplinary team 128
List of Abbreviations
Abb. Full term
A : Androstenedione.
ABS syndrome : Antley-Bixler skeletal malformation syndrome.
ACTH : Adrenocorticotropic hormone.
ADSI : Ankara Developmental Screening Inventory scale.
AHC : Adrenal hypoplasia congenita.
AIS : Androgen insensitivity syndrome.
AMH : Anti-Müllerian hormone
AR : Androgen receptor.
Atrx gene : Alpha thalassemia/mental retardation syndrome X-linked.
BDI-II : Beck Depression Inventory, 2nd Revision scale.
BPES : Blepharophimosis/Ptosis/Epicanthus inversus Syndrome.
CAH : Congenital adrenal hyperplasia
CAIS : Complete Androgen insensitivity syndrome.
CBT : Cognitive-behavioral therapy.
CDP : The Committee of Development Policy.
CGIS : The Clinical Global Impression Scale.
CYP11A1 : Cytochrome P450 cholesterol side-chain. cleavage enzyme (P450SCC).
CYP17 : Cytochrome P450 17 α -hydroxylase.
List of Abbreviations (Cont…)
Abb. Full term
DAX-1 gene : (DSS, AHC, X-linked gene1) is part of the dosage senestive sex Reversal locus-adrenal hypoplasia congenita critical region on the X-chromosome gene1.
DHEA : Dehydroepiandrosterone.
DHEAS : Dehydroepiandrosterone sulfate.
Dhh gene : Desert hedgehog, a member of the hedgehog family of signaling proteins, located in 12q12-q13.1
DHT : Dihydrotestosterone
DM : DNA-binding Motif
Dmrt1 gene : DNA-binding Motif (DM) domain genes expressed in testis 1
Dmrt2 gene : DNA-binding Motif (DM) domain genes expressed in testis 2
DOC : Deoxycorticosterone.
DSD : Disorders of sexual differentiation
DSM : The Diagnostic Statistical Manual of Mental Disorders.
DSM-IV : The Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition.
ECT : Electroconvulsive therapy.
Emx2 gene : Empty spiracles homeobox 2.
ESPE : The European Society for Paediatric Endocrinology
List of Abbreviations (Cont…)
Abb. Full term
ETRS : Embryonic testicular regression syndrome
EUA : Examination under anaesthesia.
Fgf9 gene : Fibroblast growth factor 9.
FISH : Fluorescent in situ hybridization.
FOXL2 gene : Forkhead box protein L2, forkhead transcription factor.
FSH : Follicle Stimulating Hormone
FtM : Female to male.
GI : Gender identity.
GID : Gender identity disorder.
GMT : The Gender Medicine Team.
GnRH : Gonadotrophin-releasing hormone.
GR : Gender role.
Ham-DRS : Hamilton Depression Rating Scale.
HARS : Hamilton Anxiety Rating Scale.
HCG : Human chorionic gonadotropin.
HRQoL : Health-related quality of life.
ICD : The International Classification of Diseases.
IPT : Interpersonal therapy.
ISNA : Intersex Society of North America.
K-SADS : The Kiddie-Schedule for Affective Disorders and Schizophrenia scale.
LH : Lutenizing Hormone
LHCGR gene : Luteinizing hormone/choriogonadotropin receptor gene.
Lhx9 gene : LIM homeobox gene.
List of Abbreviations (Cont…)
Abb. Full term
Lim1 gene : LIM-class homeobox gene lim 1.
LWPES : The Lawson Wilkins Pediatric Endocrine Society
MAGEB genes : The melanoma antigen gene (MAGE) family.
MAIS : Mild Androgen insensitivity syndrome.
MAOIs : Monoamine oxidase inhibitors.
MDT : Multidisciplinary team.
MGD : Mixed gonadal dysgenesis.
MIS : Mullerian inhibiting substance.
MRKH : Mayer-Rokitansky-Küster-Hauser.
MtF : Male to female.
NR5A1 : Nuclear Receptor Subfamily 5, Group A, Member 1
NROB1 : Nuclear receptor subfamily O, group B, member 1
PAIS : Partial Androgen insensitivity syndrome.
PGD : Pure gonadal dysgenesis.
PMDS : Persistent Müllerian duct syndrome.
POR gene : P450 oxido-reductase gene.
PORD : Cytochrome P450 oxido-reductase deficiency.
QIDS-SR : Quick Inventory of Depression Symptomatology-Self-Report scale.
R spo1gene : R spondin 1.
R92Q mutation : A mutation of the tumour necrosis factor superfamily 1A gene (TNFRSF1A).
List of Abbreviations (Cont…)
Abb. Full term
SERKAL syndrome : 46, XX Sex reversal with dysgenesis of kidneys, adrenals and lungs.
SES : Socioeconomic status.
SF-1 gene : Steroidogenic factor-1.
SNRI : Selective norepinephrine-reuptake inhibitor.
SOX-8 gene : SRY-related HMG-box gene 8.
SOX-9 gene : SRY-related HMG-box gene 9.
SRY gene : Sex-determining gene on the Y chromosome.
SSRIs : Selective serotonin reuptake inhibitors.
StAR: Steroidogenic acute regulatory protein.
SULT2A1 : Sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1.
T : Testosterone.
TCAs : Tricyclic antidepressants.
TDF gene : Testis-determining factor.
UGS : Urogenital sinus.
UKCEN : United Kingdom of Clinical Ethics Network.
WISC-R : Wechsler Intelligence Scale for Children-Revised.
Wnt-4 gene : Wingless-type mouse mammary tumour virus (MMTV) integration site family member 4.
List of Abbreviations (Cont…)
Abb. Full term
WPATH : The Standards of Care of the World Professional Association of Transgender Health.
WT1 gene : Wilms’ tumor gene.
Y-BOCS : Yale-Brown Obsessive Compulsive Scale.
11OHD : 11β-Hydroxylase deficiency.
17OHP : 17- Hydroxyprogesterone.
17OHPreg : 17-hydroxypregnenolone.
17β-HSD 3 Deficiency : 17β-hydroxysteroid dehydrogenase type 3 defeciency.
21-OHD : 21-hydroxylase deficiency.
3-OHD : 3β-hydroxylase deficiency.
3β-HSD II D : 3beta Hydroxysteroid Dehydrogenase type II deficiency.
5αR :5alpha reductase.
5α-R2D : 5 alpha reductase type 2 deficiency.
5α-RD : 5 alpha reductase deficiency
β-catenin : Beta- catenin is a dual function protein, regulating the coordination of cell–cell adhesion and gene transcription.
El Said,Eman Abd El Mouttalep
618 أمراض النساء والولادة والموضوعات ذات الصلة  
Disorders of Sexual Differentiation in Pediatrics
تصفح الوعاء  

Articles
618 أمراض النساء والولادة والموضوعات ذات الصلة  
Gonadal dysgenesis - sexual differentiation - Cytogenetic
Bulletin of High Institute of Public Health.
N. 2(April2008),P.370-398. /

Thesis 2010
Dalia Mohamed Ahmed Mohamed
Dalia Mohamed Ahmed Mohamed ,

 







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