SE-ATLAS

Chimère tétragamétique Hypothyroïdie congénitale transitoire génétique Syndrome d'hypogonadisme hypogonadotrope-microcéphalie sévère-surdité neurosensorielle-dysmorphie Syndrome AREDYLD Tumeur ectopique sécrétrice d'aldostérone Cancer familial papillaire de la thyroïde avec néoplasie rénale papillaire Lissencéphalie liée à l'X avec anomalies génitales Polyendocrinopathie auto-immune type 1 Adrénoleucodystrophie liée à l'X Hypothyroïdie congénitale due à une exposition maternelle aux médicaments antithyroïdiens Anémie mégaloblastique thiamine-dépendante Adrénoleucodystrophie néonatale Différence du développement sexuel 46,XX par excès d'androgènes foetoplacentaire Nanisme microcéphalique ostéodysplasique primordial type II Hyperaldostéronisme primitif rare traitable chirurgicalement Diabète néonatal transitoire Excès apparent de minéralocorticoïdes Diabète néonatal permanent isolé Syndrome de Wilson-Turner Agénésie pénienne Maladie rare de la thyroïde d'origine génétique Syndrome triple A Syndrome d'insuffisance antéhypophysaire-déficit immunitaire variable Obésité syndromique Hyperaldostéronisme primitif rare non traitable chirurgicalement Syndrome de Cushing dépendant de l'ACTH Syndrome de Cushing par sécrétion ectopique d'ACTH Syndrome d'hypogonadisme hypogonadotrope-rétinite pigmentaire Hypothyroïdie congénitale transitoire Syndrome de Wolfram Hypophosphatémie liée à l'X Hyperinsulinisme congénital lié à la glucokinase Syndrome de Woodhouse-Sakati Hyperinsulinisme focal résistant au diazoxide Syndrome de Coffin-Lowry Syndrome de Cushing indépendant de l'ACTH Rachitisme hypophosphatémique autosomique dominant Syndrome de Cohen Syndrome de chondrodysplasie-différence du développement sexuel Syndrome de Laurence-Moon Syndrome d'Allan-Herndon-Dudley Syndrome d'obésité infantile d'installation rapide-dysfonctionnement hypothalamique-hypoventilation-dysautonomie Différence du développement sexuel 46,XY par défaut de production d'androgènes Syndrome de petite taille-anomalies hypophysaires et cérébelleuses-selle turcique anormale Syndrome de Turner Syndrome de déficience intellectuelle-épilepsie-macrocéphalie-obésité Différence du développement sexuel 46,XY d'origine endocrine Carcinome papillaire ou folliculaire familial de la thyroïde Syndrome IMAGe Pseudohypoparathyroïdie type 1C Syndrome d'Alström Pseudohypoparathyroïdie type 1A Obésité non syndromique génétique Pseudopseudohypoparathyroïdie Cancer médullaire de la thyroïde familial Lipodystrophie partielle familiale associée à PLIN1 Hypothyroïdie rare de l'adulte Syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope Syndrome de Kallmann Diabète sucré rare Différence du développement sexuel Maladie rare de la thyroïde Carcinome non médullaire familial de la thyroïde Différence du développement sexuel 46,XY par déficit en 17-bêta-hydroxystéroïde déshydrogénase 3 Maladie rare des surrénales Polyendocrinopathie auto-immune type 3 Différence du développement sexuel 46,XY par déficit en 5-alpha-réductase de type 2 Syndrome de microdélétion Xq21 Déficit hypophysaire Syndrome d'insensibilité aux androgènes Insuffisance somatotrope isolée type IA Goitre multinodulaire familial Syndrome d'hypoplasie pancréatique-diabète-cardiopathie congénitale Hypothyroïdie syndromique Hypoplasie des cellules de Leydig Différence du développement sexuel 46,XX due aux androgènes d'origine maternelle exogène Syndrome de Frasier Insuffisance surrénale primaire chronique Syndrome WAGR Syndrome de lipodystrophie-déficience intellectuelle-surdité Insuffisance surrénale primaire Syndrome SERKAL Différence du développement sexuel 46,XX due à un excès d'androgènes foetal Laminopathie lipodystrophique sévère autosomique semi-dominante Différence du développement sexuel 46,XY par défaut de synthèse du cholestérol Insuffisance surrénale primaire chronique génétique Puberté précoce centrale Aplasie müllérienne et hyperandrogénie Acquired chronic primary adrenal insufficiency Pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome Aromatase excess syndrome Isolated growth hormone deficiency type IB Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome 46,XY difference of sex development due to a testosterone synthesis defect Denys-Drash syndrome Generalized resistance to thyroid hormone Syndrome with 46,XX difference of sex development 46,XY difference of sex development due to adrenal and testicular steroidogenesis defect Non-acquired isolated growth hormone deficiency Hypocalcemic rickets Genetic obesity Rabson-Mendenhall syndrome Neonatal diabetes mellitus Laron syndrome Familial glucocorticoid deficiency Familial adrenal hypoplasia with absent pituitary luteinizing hormone Congenital lipoid adrenal hyperplasia due to STAR deficency Maternally-inherited diabetes and deafness Ataxia-hypogonadism-choroidal dystrophy syndrome Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency Disorders of vitamin D metabolism X-linked adrenal hypoplasia congenita Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency Aromatase deficiency Waterhouse-Friderichsen syndrome Congenital adrenal hypoplasia of maternal cause Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome 46,XX ovotesticular difference of sex development 46,XY disorder of gonadal development Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency Multiple paragangliomas associated with polycythemia Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency Hyperinsulinism due to UCP2 deficiency Wolfram-like syndrome Hereditary hypophosphatemic rickets with hypercalciuria Short fifth metacarpals-insulin resistance syndrome 46,XY difference of sex development due to isolated 17,20-lyase deficiency Partial androgen insensitivity syndrome Sickle cell anemia Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency Acquired premature ovarian failure Cushing disease Rare precocious puberty Leprechaunism Anophthalmia/microphthalmia-esophageal atresia syndrome Congenital hypothyroidism due to developmental anomaly Dysmorphism-short stature-deafness-difference of sex development syndrome Non-acquired premature ovarian failure Rubinstein-Taybi syndrome Athyreosis 46,XY difference of sex development induced by maternal exposure to endocrine disruptors Thyroid ectopia Isolated growth hormone deficiency type III Medullary thyroid carcinoma Primary congenital hypothyroidism without thyroid developmental anomaly Rare diabetes mellitus type 1 Hyperinsulinism due to HNF1A deficiency 46,XY complete gonadal dysgenesis Idiopathic congenital hypothyroidism Rare insulin-resistance syndrome Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome 48,XXXY syndrome 46,XX gonadal dysgenesis Familial thyroid dyshormonogenesis Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome Multiple endocrine neoplasia type 2 Thyroid hemiagenesis Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies syndrome MOMO syndrome Congenital thyroid malformation without hypothyroidism Generalized congenital lipodystrophy with myopathy Hypothyroidism due to TSH receptor mutations Autosomal dominant hyperinsulinism due to SUR1 deficiency 49,XXXXY syndrome Bardet-Biedl syndrome Congenital isolated hyperinsulinism 46,XX difference of sex development-skeletal anomalies syndrome Thyroid hypoplasia Isolated thyroid-stimulating hormone deficiency Pseudoleprechaunism syndrome, Patterson type Rare thyroid carcinoma Rare disease with adrenal Cushing syndrome as a major feature Triploidy Multiple endocrine neoplasia 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency Rare thyroid tumor Autosomal dominant hyperinsulinism due to Kir6.2 deficiency Familial hyperaldosteronism Corticosteroid-binding globulin deficiency Cushing syndrome due to bilateral macronodular adrenocortical disease Acquired generalized lipodystrophy Pituitary adenoma Multiple endocrine neoplasia type 4 Familial thyroglossal duct cyst Insulin-resistance syndrome type A Rare diabetes mellitus type 2 Insulin-resistance syndrome type B Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome Diazoxide-resistant hyperinsulinism Adrenal/paraganglial tumor 46,XX difference of sex development Familial gestational hyperthyroidism Isolated follicle stimulating hormone deficiency Other rare diabetes mellitus Isolated congenital hypogonadotropic hypogonadism Congenital generalized lipodystrophy Albright hereditary osteodystrophy Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism Primary unilateral adrenal hyperplasia Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome Ossification anomalies-psychomotor developmental delay syndrome Blepharophimosis-ptosis-epicanthus inversus syndrome Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome Autosomal recessive hyperinsulinism due to Kir6.2 deficiency Borjeson-Forssman-Lehmann syndrome Autosomal recessive hyperinsulinism due to SUR1 deficiency Persistent Müllerian duct syndrome Short stature-delayed bone age due to thyroid hormone metabolism deficiency Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency Familial hyperaldosteronism type III Bamforth-Lazarus syndrome Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency Familial hyperaldosteronism type I Rare hypothyroidism Familial hyperaldosteronism type II Growth hormone insensitivity syndrome Carney complex Non-acquired panhypopituitarism Familial hypocalciuric hypercalcemia Resistance to thyrotropin-releasing hormone syndrome Johanson-Blizzard syndrome XY type gonadal dysgenesis-associated anomalies syndrome Peripheral resistance to thyroid hormones 46,XX testicular difference of sex development Diazoxide-resistant diffuse hyperinsulinism Meacham syndrome Aldosterone-producing adenoma Eiken syndrome Smith-Lemli-Opitz syndrome Familial peripheral male-limited precocious puberty Neonatal iodine exposure Rare hyperthyroidism Fetal iodine syndrome Hydrocephalus-obesity-hypogonadism syndrome CHARGE syndrome 46,XY partial gonadal dysgenesis Ulnar-mammary syndrome Primary pigmented nodular adrenocortical disease Acromegaly Adrenocortical carcinoma 45,X/46,XY mixed gonadal dysgenesis Campomelic dysplasia Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome Diazoxide-sensitive diffuse hyperinsulinism Testicular agenesis Multiple endocrine neoplasia type 1 Pallister-Hall syndrome 46,XY ovotesticular difference of sex development Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome 46,XX difference of sex development-anorectal anomalies syndrome Hypocalcemic vitamin D-resistant rickets Brain-lung-thyroid syndrome X-linked central congenital hypothyroidism with late-onset testicular enlargement Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome Difference of sex development-intellectual disability syndrome Perrault syndrome Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome Exercise-induced hyperinsulinism Endogenous Cushing syndrome Distal deletion 9p Anaplastic thyroid carcinoma Autoimmune polyendocrinopathy type 2 Hyperinsulinism-hyperammonemia syndrome Congenital hypogonadotropic hypogonadism MODY Short stature due to partial GHR deficiency Hyperandrogenism due to cortisone reductase deficiency Kallmann syndrome-heart disease syndrome Cushing syndrome Neonatal severe primary hyperparathyroidism Congenital adrenal hyperplasia Pituitary resistance to thyroid hormone Adrenogenital syndrome Differentiated thyroid carcinoma ANE syndrome Sudden infant death-dysgenesis of the testes syndrome Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome Adrenal Cushing syndrome Hypocalcemic vitamin D-dependent rickets 46,XX difference of sex development induced by androgens excess Transient congenital hypothyroidism due to maternal factor Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome Temple syndrome Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency Familial hyperthyroidism due to mutations in TSH receptor Intermediate DEND syndrome Short stature due to GHSR deficiency Rare primary hyperaldosteronism McCune-Albright syndrome Transient congenital hypothyroidism due to neonatal factor Carpenter syndrome Primary congenital hypothyroidism 46,XY difference of sex development Primary bone dysplasia with defective bone mineralization Rare hypoaldosteronism Syndrome with 46,XY difference of sex development Septo-optic dysplasia spectrum Pituitary stalk interruption syndrome Sporadic pheochromocytoma/secreting paraganglioma Hereditary pheochromocytoma-paraganglioma 46,XY difference of sex development due to a defect in testosterone metabolism by peripheral tissue Adrenomyodystrophy Autosomal recessive hypophosphatemic rickets Permanent congenital hypothyroidism Disease associated with non-acquired combined pituitary hormone deficiency Pendred syndrome Cataract-intellectual disability-hypogonadism syndrome Sporadic secreting paraganglioma Central congenital hypothyroidism MORM syndrome SHORT syndrome Hypophosphatasia Hypophosphatemic rickets Testicular regression syndrome DEND syndrome Addison disease Growth delay due to insulin-like growth factor type 1 deficiency Congenital isolated ACTH deficiency Muskelpseudohypertrophie - Hypothyreose Wolcott-Rallison-Syndrom Insulinom Wachstumsverzögerung durch IGF-1-Resistenz Primärer Hyperaldosteronismus-Krämpfe-Neurologische Anomalien-Syndrom Hypophysenhormon-Mangel, nicht erworbener, kombinierter, ohne assoziierte extrahypophysäre Fehlbildung Hypothyreose, kongenitale Hypothyreose durch Mangel von Transkriptionsfaktoren zur Entwicklung oder Funktion der Hypophyse Mikrodeletionssyndrom 16p11.2, distal Adrenokortikales Karzinom mit isolierter Aldosteron-Hypersekretion 46,XX-DSD, Androgen-induzierter, maternalen Ursprungs Katecholamin-produzierender Tumor PAGOD-Syndrom Osteosklerose-Ichthyose-vorzeitige Ovarialinsuffizienz-Syndrom Hypothyreose, periphere Kraniopharyngeom 46,XX Störung der Gonadenentwicklung MEHMO-Syndrom Achondroplasie Wachstumsstörung, hormonelle Dominante Hypophosphatämie mit Nephrolithiasis oder Osteoporose 46,XY-Gonadendysgenesie mit motorisch-sensorischer Neuropathie Kleinwuchs durch primären Mangel der säurelabilen Untereinheit Hypogonadotroper Hypogonadismus-frontoparietale Alopezie-Syndrom Wachstumshormonmangel, isolierter, Typ II Hypophysenhormon-Mangel, nicht erworbener Thyrotropin-Releasing-Hormon (TRH)-Mangel, isolierter Androgen-Insensitivität, komplette Endokrinopathie mit kongenitalen hypogonadotropen Hypogonadismus als Hauptmerkmal 46,XY-DSD durch testikulären Steroidogenese-Defekt Nebenniereninsuffizienz, akute 48,XXYY-Syndrom Glukokortikoid-Resistenz, generalisierte Multiple endokrine Neoplasie Typ 2A Hypophysenhormon-Mangel, kombinierter, nicht-erworbener Störung der Geschlechtsentwicklung 46,XX, induziert durch endogenes Androgen maternalen Ursprungs Hypothyreose, kongenitale, durch transplazentare Passage von maternalen TSH-bindenden inhibitorischen Antikörpern Blepharophimose-Intelligenzminderung-Syndrom Typ SBBYS Hyperinsulinismus durch HNF4A-Mangel Multiple endokrine Neoplasie Typ 2B Hypoaldosteronismus, familiärer Hypophysenhormon-Mangel, kombinierter, genetisch bedingte Formen Störung der Geschlechtsentwicklung mit aberranten Geschlechtschromosomen Von-Hippel-Lindau-Krankheit Hypochondroplasie