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Blueprint of Pediatric Endocrinology Book See discussions, stats, and author profiles for this publication at: https://www.researchgate.net/publication/317428263 blueprint of pediatric endocrinology book Book · January 2014 CITATIONS READS 0 27 1 author: Abdulmoein Eid Al - Agha King Abdulaziz University 148 PUBLICATIONS 123 CITATIONS SEE PROFILE Some of the authors of this publication are also working on these related projects: HYPOPHOSPHATEMIC RICKETS, EPIDERMAL NEVUS SYNDROME WITH... View project HYPERTRIGLYCERIDAEMIA-INDUCED ACUTE PANCREATITIS IN AN INFANT: A CASE REPORT View project All content following this page was uploaded by Abdulmoein Eid Al - Agha on 09 June 2017. The user has requested enhancement of the downloaded file. IN THE NAME OF ALLAH, THE MERCIFUL, THE MERCY-GIVING iii Blueprint in Pediatric Endocrinology Abdulmoein Eid Al-Agha, MBBS, DCH, FRCPCH Pediatric Endocrinologist King AbdulAziz University Faculty of Medicine Jeddah, Saudi Arabia © King Abdulaziz University: 1435 A.H. (2014 AD.) All rights reserved. 1st Edition: 1435 A.H. (2014 A.D.) Table of Contents Chapter 1: Basic Endocrinology Introduction…………………………………………………………………….. 3 Effects of hormones…………………………………………………………….. 3 Types of hormones……………………………………………………………… 4 Types of Hormone Receptors………………...………………………………... 5 Loss – of – function mutations………………………………………………….. 7 Gain – of – function mutations……………………………...………………….. 9 Fetal Brain Programming ………………………………………………………. 10 The endocrine system ……………………………...…………………………... 10 Hypothalamic-Pituitary Relationships………………………………………….. 10 Hypothalamic Controls…………………………………………………………. 11 Anterior Pituitary Function……………………………………………………... 11 Posterior Pituitary Function…………………………………………………….. 13 Chapter 2: Disorders of Calcium and Bone Metabolism Introduction…………………………………………………………..…………. 17 Vitamin D ………………………………………………………………………. 18 Parathyroid glands…………………………………………………...…………. 19 Calcitonin……………………………………………………………………….. 20 The calcium-sensing receptor (CaSR)………………………………………….. 21 Parathyroid Hormone–Related Peptide (PTHrP)……………………………….. 21 Hypocalcaemia………………………………………………………………….. 22 Hypocalcaemia in neonates……………………………………………………... 22 Hypocalcaemia in infants & children…………………………...……………… 23 Clinical manifestations of Hypocalcaemia…………………...………………… 24 Investigations of Hypocalcaemia……………………………………………….. 25 Rickets and Osteomalacia………………………………………………………. 28 Causes of Rickets ………………………………………………………………. 29 Vitamin D–dependent rickets (type I)…………………………………………... 35 v vi Blueprint in Pediatric Endocrinology Vitamin D-resistant rickets (type II vitamin D–dependent rickets) ……………. 35 Hypophosphatemic Rickets…………………………………………………….. 37 Hypophosphatasia ……………………………………………………………… 37 Treatment of Hypophosphatasia ……………………………………………….. 38 Drug-induced rickets……………………………………………………………. 39 Fanconi's syndrome …………………………………………………………….. 40 McCune-Albright syndrome……………………………………………………. 40 Renal Osteodystrophy (Renal Rickets)…………………………………………. 41 Hepatic Rickets…………………………………………………………………. 41 Malabsorption & Rickets……………………………………………………….. 41 Oncogenic Osteomalacia……………………………………………………….. 42 Hypoparathyroidism……………………………………………………………. 43 Pseudohypoparathyroidism (PHP)……………………………………………… 49 Pseudopseudohypoparathyroidism …………………………………………….. 51 Treatment of Pseudopseudohypoparathyroidism ………………………………. 54 Hypomagnesaemia……………………………………………………………… 54 Hypercalcemia in children……………………………………………………… 55 Oncogenic Hypercalcemia……………………………………………………… 59 Clinical manifestations of hypercalcemia………………………………………. 59 Treatment of Oncogenic Hypercalcemia……………………………………….. 60 Osteoporosis in children and adolescence……………………………………… 63 Primary osteoporosis……………………………………………………………. 64 Osteogenesis imperfecta (OI)…………………………………………………... 65 Idiopathic juvenile osteoporosis ……………………………………………...... 67 Secondary osteoporosis…………………………………………………………. 67 Chapter 3: Disorders of sex development Classification of disorders of sexual development……………………….....…… 80 Stages of sexual differentiation…………………………………………………. 80 Sex differentiation in embryo and fetus………………………………………… 80 Gonadal differentiation…………………………………………………………. 81 Causes of abnormal sexual differentiation……………………………………… 85 Table of Contents vii Congenital Adrenal hyperplasia (CAH)………………………………………… 85 Maternal androgens …………………………………………………………….. 89 Aromatase enzyme deficiency………………………………………………….. 89 XX Male Syndrome ……………………………………………………………. 90 Persistent Müllerian Duct Syndrome (PMDS)……………….………………… 90 Gonadotrophin deficiency causing DSD……………………………………….. 91 Leydig cell agenesis ………………………………………………….………… 91 Testosterone biosynthesis defects………………………………………………. 91 Androgen Insensitivity Syndrome (AIS) ………………………….…………… 92 5-alpha-reductase type 2 deficiency ……………………………….…………… 93 Ovotesticular disorders of sexual development (formerly true hermaphroditism) 93 …………………………………………………………… Partial gonadal dysgenesis……………………………………………………… 94 Pure gonadal dysgenesis………………………………………………………... 95 XY Female Syndrome …………………………………………………………. 95 Diagnosis of CAH……………………………………………………….……… 96 Medical management of CAH………………………………………………...... 98 Considerations for sex assignment in CAH………………...…………………... 99 Dysmorphic syndromes with DSD……………………………………………... 101 Micropenis……………………………………………………………………… 105 Hypospadias ……………………………………………………………………. 110 Cryptorchidism………………………………………………………………..... 110 Retractile testicle(s)…………………………………………………………….. 114 Chapter 4: Reproductive Disorders Normal pubertal development………………………………………..………… 117 Physiology of Puberty……………………………...…………………………… 118 Puberty onset…………………………………………………...……………….. 121 Physical changes in boys during Puberty……………………………………...... 122 Physical changes in girls during pubrty………………………………………… 124 Precocious Puberty……………………………………………………………… 126 Sequelae of precocious puberty………………………………………………… 127 Causes of central (GnRH dependent)…………………………………………... 128 viii Blueprint in Pediatric Endocrinology Environmental & genetic factors influencing HPG axis activation………..…... 128 Peripheral precocious puberty…………………………………...……………… 129 McCune-Albright Syndrome (MAS)………………………………...…………. 131 Variation of normal pubertal development…………………………...………… 133 Premature pubarche ………………………………………………...………….. 134 Premature Thelarche ………………………………………………...…………. 134 Growth hormone (GH)………………………………………………...………... 137 Cyproterone acetate (Androcur)………………………………………..………. 139 Medroxyprogestrone acetate (Depo-Provera)…………………………...……… 140 GnRH antagonist…………………………………………………………...…… 140 Treatment of peripheral precocious puberty………………………………...….. 142 Complications of peripheral precocious puberty……………………………...... 145 Delayed puberty………………………………………………………………… 145 Hypogonadotropic hypogonadism……………………………………………… 146 Constitutional Delay of Growth and Puberty (CDGP)…………………………. 149 Hypothalamic-pituitary disorders………………………………………………. 149 Hypergonadotrophic hypogonadism……………………………………………. 150 Turner's syndrome ……………………………………………………………… 151 Klinefelter's syndrome …………………………………………………………. 152 Pubertal induction………………………………………………………………. 155 Polycystic Ovarian Syndrome (PCOS)…………………………………………. 156 Hirsutism……………………………………………………………………….. 160 Ferriman-Gallwey score for hirsutism…………………………………...…….. 161 Gynecomastia…………………………………………………………………… 165 Causes of elevated estrogen levels or activity………………………………….. 167 Causes of testosterone deficiency………………………………………………. 167 Causes of impaired testosterone action…………………………………………. 168 Chapter 5: Thyroid disorders in children The Thyroid Gland……………………………………………………………… 173 The Placenta and the Thyroid Gland…………………………………………… 174 Physiology the Thyroid Gland………………………………………………..... 175 Table of Contents ix Thyroid hormone synthesis…………………………………………………….. 176 Congenital Hypothyroidism (CH)……………………………………………… 177 Causes of permanent congenital hypothyroidism ……………………………… 178 Diagnostic tests in thyroiditis…………………………………………………… 178 Treatment of thyroiditis………………………………………………………… 186 Drugs or goitrogens…………………………………………………………….. 187 Secondary or tertiary hypothyroidism………………………………………….. 187 Thyroid hormone resistance…………………………………………………..... 187 Clinical manifestations of acquired hypothyroidism…………………………… 188 Average daily doses of L-Thyroxin…………………………………………..... 190 Hyperthyroidism……………………………………………………………….. 190 Transient neonatal hyperthyroidism……………………………………………. 190 Clinical manifestations of hyperthyroidism…………………………………..... 191 Neonatal thyrotoxicosis………………………………………………………… 192 Permanent neonatal hyperthyroidism…………………………………………… 193 Chapter 6: Growth and Growth Disorders Hormonal influences on fetal growth ………………………..………………… 209 Factors determining normal growth depend on the child's age………………… 209 Growth assessment……………………………………………………………… 210 Short stature…………………………………………………………………...... 212 Causes of short stature………………………………………………………...... 213 SHOX deficiency syndromes …………………………………………………... 218 Malnutrition…………………………………………………………………….. 220 Malabsorption / Gastrointestinal Diseases……………………………………… 220 Syndromes associated with short stature……………………………………….. 221 Congenital GH deficiency………………………………………………………. 229 Hypothalamic–Pituitary Malformations………………………………………... 229 Hereditary GH Deficiency……………………………………………………… 230 GH1 gene……………………………………………………………………...... 231 GHRH Receptor………………………………………………………………… 231 Congenital structural CNS defects …………………………………………….. 231 x Blueprint in Pediatric Endocrinology CNS Tumors …………………………………………………………………… 232 Craniopharnygioma …………………………………………………………...... 232 Cranial irradiation ……………………………………………………………… 233 Growth velocity………………………………………………………………… 236 Laboratory evaluation of short stature………………………………………...... 238 Subsequent tests
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