SE-ATLAS

Hypoplasie congénitale des surrénales liée à l'X Lipoatrophie localisée due à la pression Lipodystrophie génétique Syndrome de Moebius-neuropathie axonale-hypogonadisme hypogonadotrope Hypercalcémie infantile autosomique récessive Lipodystrophie partielle familiale Syndrome 47,XYY Hypothyroïdie par mutation du récepteur de la TSH Syndrome d'hypomyélinisation-hypogonadisme hypogonadotrope-hypodontie Maladie rare avec atteinte multisystémique et hypogonadisme hypogonadotrope congénital Cancer anaplasique de la thyroïde Cancer différencié de la thyroïde Hyperthyroïdie rare Endocrinopathie avec hypogonadisme hypogonadotrope congénital comme manifestation majeure Maladie d'Addison Hypoparathyroïdie rare Syndrome de McCune-Albright Syndrome adrenogenital Craniopharyngiome Adénome producteur d'aldostérone Tétrasomie X Cancer familial papillaire de la thyroïde avec néoplasie rénale papillaire Hypothyroïdie congénitale transitoire génétique Syndrome d'aneuploïdie en mosaïque Différence du développement sexuel 46,XX due aux androgènes d'origine maternelle Syndrome 48,XXYY Pentasomie X Syndrome de duplication Xq12-q13.3 Syndrome d'hyperinsulinisme et hyperammoniémie Hyperinsulinisme familial Syndrome de microduplication Xq28 distale Obésité par déficit congénital en leptine Hyperinsulinisme par déficit en UCP2 Spectre de dysplasie septo-optique Dysplasie fibreuse polyostotique Syndrome d'hypospadias-hypertélorisme-colobome et surdité Hyperinsulinisme autosomique dominant par déficit en Kir6.2 Syndrome d'insensibilité complète aux androgènes Hyperinsulinisme diffus résistant au diazoxide Exposition néonatale à l'iode Hyperinsulinisme induit par l'effort Hypothyroïdie congénital transitoire de cause néonatale Syndrome de spina bifida-hypospadias Résistance hypophysaire aux hormones thyroïdiennes Hypothyroïdie congénitale transitoire de cause maternelle Hyperinsulinisme resistant au diazoxide Forme rare de diabète de type 1 Syndrome rare de résistance à l'insuline Disomie uniparentale d'origine paternelle du chromosome 1 Disomie uniparentale d'origine maternelle du chromosome 1 Diabète de type 2 rare Autre forme rare de diabète sucré Syndrome d'hypertélorisme-hypospadias-polysyndactylie Insuffisance surrénalienne aiguë Hypothyroïdie rare Hyperaldostéronisme primitif rare Syndrome d'excès d'aromatase Syndrome de dérèglement immunitaire-polyendocrinopathie-entéropathie lié à l'X Syndrome d'hypogonadisme hypergonadotrope-alopécie fronto-pariétale Syndrome d'hypogonadisme hypergonadotrope primaire-alopécie partielle Syndrome d'hypogonadisme hypogonadotrope-rétinite pigmentaire Syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope Obésité par déficit en SIM1 Triplication distale 15q Diabète néonatal Tétrasomie 18p Insuffisance somatotrope isolée type IA Tétrasomie 9p Lipodystrophie partielle acquise Dyschondrostéose de Léri-Weill Lipodystrophie localisée Dysgénésie gonadique 46,XX Hypercalcémie hypocalciurique familiale type 1 Syndrome d'hypoplasie du radius-pouces triphalangés-hypospadias-progénie Syndrome d'hypospadias-déficience intellectuelle type Goldblatt Syndrome de Denys-Drash Syndrome de dysmorphie-petite taille-surdité-différence du développement sexuel Lipodystrophie partielle familiale associée à PPARG Lipodystrophie partielle familiale associée à AKT2 Tétrasomie 5p Lipodystrophie partielle familiale type Köbberling Lipodystrophie généralisée acquise Dysgénésie gonadique complète 46,XY Dysplasie fibreuse des os Insuffisance somatotrope isolée type IB Insuffisance somatotrope isolée type II Hyperinsulinisme congénital par déficit en HNF4A Syndrome de microduplication Xp11.22p11.23 Hyperinsulinisme par déficit en INSR Trisomie X Syndrome de Schilbach-Rott Acrogigantisme lié à l'X Syndrome de délétion Xp21 Maladie rare avec un syndrome de Cushing surrénalien comme manifestation majeure Hyperaldostéronisme familial type III Gigantisme hypophysaire Disomie uniparentale maternelle du chromosome 13 Insuffisance somatotrope isolée type III Obésité due à une résistance congénitale à la leptine Obesity due to leptin receptor gene deficiency Obesity due to CEP19 deficiency Familial partial lipodystrophy, Dunnigan type Medullary thyroid carcinoma Laurence-Moon syndrome Xq27.3q28 duplication syndrome Hypergonadotropic hypogonadism-cataract syndrome 46,XX testicular difference of sex development Maternal uniparental disomy of chromosome X Familial hyperaldosteronism type II Familial hyperaldosteronism type I Familial hypocalciuric hypercalcemia 49,XXXYY syndrome Familial hyperthyroidism due to mutations in TSH receptor Normosmic congenital hypogonadotropic hypogonadism Lower limb malformation-hypospadias syndrome Short stature due to GHSR deficiency Non-acquired premature ovarian failure Primary congenital hypothyroidism without thyroid developmental anomaly Homozygous familial hypercholesterolemia Xp22.13p22.2 duplication syndrome Cushing syndrome ACTH-independent Cushing syndrome Paternal uniparental disomy of chromosome X Congenital adrenal hyperplasia Familial hyperaldosteronism Keppen-Lubinsky syndrome Short stature due to partial GHR deficiency Congenital hypothyroidism Congenital glucokinase-related hyperinsulinism Rare female infertility due to a congenital hypogonadotropic hypogonadism Rare precocious puberty Kallmann syndrome Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies Idiopathic congenital hypothyroidism Congenital hypogonadotropic hypogonadism Congenital generalized lipodystrophy Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency Partial deletion of chromosome X Cushing syndrome due to ectopic ACTH secretion Isolated thyroid-stimulating hormone deficiency ACTH-dependent Cushing syndrome X and Y chromosomal anomaly Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy Partial deletion of the short arm of the chromosome X Growth delay due to insulin-like growth factor type 1 deficiency Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation Primary adrenal insufficiency Adrenal Cushing syndrome Autoimmune polyendocrinopathy Partial duplication of the short arm of chromosome X Partial duplication of chromosome X Uniparental disomy of chromosome X Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia Noonan syndrome Multiple endocrine neoplasia type 1 Congenital isolated hyperinsulinism 46,XY difference of sex development due to testicular steroidogenesis defect 46,XY difference of sex development due to isolated 17,20-lyase deficiency Opitz GBBB syndrome Rare diabetes mellitus Endogenous Cushing syndrome Chronic primary adrenal insufficiency Partial deletion of the long arm of chromosome X Pseudohypoparathyroidism type 1A Partial duplication of the long arm of chromosome X Xp22.3 microdeletion syndrome Non-acquired isolated growth hormone deficiency Laron syndrome Multiple endocrine neoplasia type 2 Albright hereditary osteodystrophy Partial androgen insensitivity syndrome Familial hypocalciuric hypercalcemia type 2 Familial hypocalciuric hypercalcemia type 3 Multiple endocrine neoplasia Multiple endocrine neoplasia type 4 46,XY difference of sex development due to testicular 17,20-desmolase deficiency Hypothalamic adipsic hypernatraemia syndrome XY type gonadal dysgenesis-associated anomalies syndrome 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency Androgen insensitivity syndrome Microtriplication 11q24.1 Rare thyroid carcinoma Autosomal recessive hyperinsulinism due to Kir6.2 deficiency Autosomal semi-dominant severe lipodystrophic laminopathy X-linked acrogigantism due to a point mutation Hyperinsulinemic hypoglycaemia Proximal Xq28 duplication syndrome 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency Leydig cell hypoplasia Rare thyroid tumor Autosomal recessive hyperinsulinism due to SUR1 deficiency PLIN1-related familial partial lipodystrophy Tetrasomy 21 8p inverted duplication/deletion syndrome Maternal uniparental disomy Autosomal uniparental disomy Obesity due to prohormone convertase I deficiency Chromosome X structural anomaly X-linked acrogigantism due to Xq26 microduplication Fetal iodine syndrome Transient congenital hypothyroidism ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor Prolactinoma 46,XX difference of sex development-skeletal anomalies syndrome 46,XX difference of sex development Familial multinodular goiter Maternal uniparental disomy of chromosome 6 Temple syndrome due to maternal uniparental disomy of chromosome 14 Primary lipodystrophy Obesity due to pro-opiomelanocortin deficiency Obesity due to melanocortin 4 receptor deficiency Paternal uniparental disomy Central diabetes insipidus Tetrasomy 12p Rare peripheral precocious puberty Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Recombinant 8 syndrome Maternal uniparental disomy of chromosome 2 Maternal uniparental disomy of chromosome 4 Maternal uniparental disomy of chromosome 9 Familial peripheral male-limited precocious puberty Maternal uniparental disomy of chromosome 16 Maternal uniparental disomy of chromosome 21 Lipodystrophy due to peptidic growth factors deficiency Paternal uniparental disomy of chromosome 6 Paternal uniparental disomy of chromosome 7 Acromegaly X small rings Familial juvenile hypertrophy of the breast Genetic non-syndromic obesity Primary bone dysplasia Primary congenital hypothyroidism Central congenital hypothyroidism Maternal uniparental disomy of chromosome 20 Maternal uniparental disomy of chromosome 22 Paternal uniparental disomy of chromosome 5 Paternal uniparental disomy of chromosome 21 Paternal uniparental disomy of chromosome 20 Syndromic hypothyroidism Hyperinsulinism due to HNF1A deficiency Cushing syndrome due to bilateral macronodular adrenocortical disease Permanent congenital hypothyroidism Cushing disease Primary pigmented nodular adrenocortical disease Paternal uniparental disomy of chromosome 13 48,XYYY syndrome Hypothyroidism due to deficient transcription factors involved in pituitary development or function Somatotropic adenoma Familial nonmedullary thyroid carcinoma Acquired lipodystrophy 49,XYYYY syndrome Thyroid lymphoma Genetic obesity Congenital hypothyroidism due to maternal intake of antithyroid drugs Drug-induced localized lipodystrophy Centrifugal lipodystrophy Panniculitis-induced localized lipodystrophy Idiopathic localized lipodystrophy Isolated congenital hypogonadotropic hypogonadism Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome Generalized congenital lipodystrophy with myopathy LIPE-related familial partial lipodystrophy Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 Prader-Willi syndrome CIDEC-related familial partial lipodystrophy Non-syndromic posterior hypospadias