SE-ATLAS

Hypothyroïdie congénitale transitoire génétique Chimère tétragamétique Syndrome d'hypogonadisme hypogonadotrope-microcéphalie sévère-surdité neurosensorielle-dysmorphie Syndrome AREDYLD Cancer familial papillaire de la thyroïde avec néoplasie rénale papillaire Tumeur ectopique sécrétrice d'aldostérone Lissencéphalie liée à l'X avec anomalies génitales Adrénoleucodystrophie liée à l'X Polyendocrinopathie auto-immune type 1 Hypothyroïdie congénitale due à une exposition maternelle aux médicaments antithyroïdiens Adrénoleucodystrophie néonatale Anémie mégaloblastique thiamine-dépendante 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 Diabète néonatal permanent isolé Excès apparent de minéralocorticoïdes Agénésie pénienne Syndrome de Wilson-Turner Syndrome d'insuffisance antéhypophysaire-déficit immunitaire variable Maladie rare de la thyroïde d'origine génétique Syndrome triple A Obésité syndromique Hyperaldostéronisme primitif rare non traitable chirurgicalement Syndrome de Cushing par sécrétion ectopique d'ACTH Syndrome de Cushing dépendant de l'ACTH Syndrome d'hypogonadisme hypogonadotrope-rétinite pigmentaire Hypophosphatémie liée à l'X Hypothyroïdie congénitale transitoire Syndrome de Wolfram Syndrome de Woodhouse-Sakati Hyperinsulinisme congénital lié à la glucokinase Syndrome de Cushing indépendant de l'ACTH Syndrome de Coffin-Lowry Hyperinsulinisme focal résistant au diazoxide Rachitisme hypophosphatémique autosomique dominant Syndrome de Cohen Syndrome de Laurence-Moon Syndrome de chondrodysplasie-différence du développement sexuel 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 Différence du développement sexuel 46,XY d'origine endocrine Syndrome de déficience intellectuelle-épilepsie-macrocéphalie-obésité Syndrome de Turner Pseudohypoparathyroïdie type 1C Syndrome IMAGe Carcinome papillaire ou folliculaire familial de la thyroïde Syndrome d'Alström Pseudohypoparathyroïdie type 1A Pseudopseudohypoparathyroïdie Obésité non syndromique génétique Cancer médullaire de la thyroïde familial Lipodystrophie partielle familiale associée à PLIN1 Syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope Hypothyroïdie rare de l'adulte Diabète sucré rare Syndrome de Kallmann Maladie rare de la thyroïde Différence du développement sexuel 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 Déficit hypophysaire Polyendocrinopathie auto-immune type 3 Différence du développement sexuel 46,XY par déficit en 5-alpha-réductase de type 2 Syndrome de microdélétion Xq21 Syndrome d'insensibilité aux androgènes Syndrome d'hypoplasie pancréatique-diabète-cardiopathie congénitale Insuffisance somatotrope isolée type IA Goitre multinodulaire familial Hypoplasie des cellules de Leydig Hypothyroïdie syndromique Insuffisance surrénale primaire chronique Syndrome de Frasier Différence du développement sexuel 46,XX due aux androgènes d'origine maternelle exogène Syndrome de lipodystrophie-déficience intellectuelle-surdité Syndrome WAGR Insuffisance surrénale primaire Différence du développement sexuel 46,XX due à un excès d'androgènes foetal Syndrome SERKAL Insuffisance surrénale primaire chronique génétique Laminopathie lipodystrophique sévère autosomique semi-dominante Différence du développement sexuel 46,XY par défaut de synthèse du cholestérol Puberté précoce centrale Insuffisance surrénale primaire chronique acquise Aplasie müllérienne et hyperandrogénie Syndrome d'excès d'aromatase Hypertrichose pigmentée avec diabète insulinodépendant Insuffisance somatotrope isolée type IB Syndrome de microcéphalie primaire-épilepsie-diabète néonatal permanent Résistance généralisée aux hormones thyroïdiennes Différence du développement sexuel 46,XY par défaut de synthèse de testostérone Syndrome de Denys-Drash Différence du développement sexuel 46,XY par défaut de la stéroïdogenèse surrénalienne et testiculaire Syndrome avec une différence du développement sexuel 46,XX Insuffisance somatotrope non acquise isolée Obésité génétique Rachitisme hypocalcémique Syndrome de Rabson-Mendenhall Syndrome de Laron Neonatal diabetes mellitus Familial glucocorticoid deficiency Congenital lipoid adrenal hyperplasia due to STAR deficency Familial adrenal hypoplasia with absent pituitary luteinizing hormone Ataxia-hypogonadism-choroidal dystrophy syndrome Maternally-inherited diabetes and deafness Disorders of vitamin D metabolism Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency X-linked adrenal hypoplasia congenita Aromatase deficiency Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency 46,XX ovotesticular difference of sex development Waterhouse-Friderichsen syndrome Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome Congenital adrenal hypoplasia of maternal cause Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency Multiple paragangliomas associated with polycythemia 46,XY disorder of gonadal development Wolfram-like syndrome Hereditary hypophosphatemic rickets with hypercalciuria Hyperinsulinism due to UCP2 deficiency Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency 46,XY difference of sex development due to isolated 17,20-lyase deficiency Short fifth metacarpals-insulin resistance syndrome 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 Dysmorphism-short stature-deafness-difference of sex development syndrome Congenital hypothyroidism due to developmental anomaly Rubinstein-Taybi syndrome Non-acquired premature ovarian failure Athyreosis 46,XY difference of sex development induced by maternal exposure to endocrine disruptors Isolated growth hormone deficiency type III Thyroid ectopia Rare diabetes mellitus type 1 Medullary thyroid carcinoma Primary congenital hypothyroidism without thyroid developmental anomaly Hyperinsulinism due to HNF1A deficiency Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome Rare insulin-resistance syndrome 46,XY complete gonadal dysgenesis Idiopathic congenital hypothyroidism 48,XXXY syndrome 46,XX gonadal dysgenesis Familial thyroid dyshormonogenesis Multiple endocrine neoplasia type 2 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome MOMO syndrome Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies syndrome Thyroid hemiagenesis Hypothyroidism due to TSH receptor mutations Generalized congenital lipodystrophy with myopathy Congenital thyroid malformation without hypothyroidism 49,XXXXY syndrome Autosomal dominant hyperinsulinism due to SUR1 deficiency Bardet-Biedl syndrome Congenital isolated hyperinsulinism 46,XX difference of sex development-skeletal anomalies syndrome Thyroid hypoplasia Isolated thyroid-stimulating hormone deficiency Rare thyroid carcinoma Pseudoleprechaunism syndrome, Patterson type Triploidy Rare disease with adrenal Cushing syndrome as a major feature 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency Multiple endocrine neoplasia Corticosteroid-binding globulin deficiency Autosomal dominant hyperinsulinism due to Kir6.2 deficiency Rare thyroid tumor Familial hyperaldosteronism Cushing syndrome due to bilateral macronodular adrenocortical disease Pituitary adenoma Acquired generalized lipodystrophy Rare diabetes mellitus type 2 Multiple endocrine neoplasia type 4 Insulin-resistance syndrome type A Familial thyroglossal duct cyst Insulin-resistance syndrome type B Diazoxide-resistant hyperinsulinism Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome Adrenal/paraganglial tumor Isolated follicle stimulating hormone deficiency 46,XX difference of sex development Familial gestational hyperthyroidism Other rare diabetes mellitus Congenital generalized lipodystrophy Isolated congenital hypogonadotropic hypogonadism Albright hereditary osteodystrophy Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism Primary unilateral adrenal hyperplasia Ossification anomalies-psychomotor developmental delay syndrome Intellectual disability-obesity-prognathism-eye and skin anomalies 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 Short stature-delayed bone age due to thyroid hormone metabolism deficiency Autosomal recessive hyperinsulinism due to SUR1 deficiency Persistent Müllerian duct syndrome Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency Bamforth-Lazarus syndrome Familial hyperaldosteronism type III Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency Familial hyperaldosteronism type I Rare hypothyroidism Growth hormone insensitivity syndrome Familial hyperaldosteronism type II Non-acquired panhypopituitarism Carney complex Familial hypocalciuric hypercalcemia Johanson-Blizzard syndrome Resistance to thyrotropin-releasing hormone syndrome Peripheral resistance to thyroid hormones XY type gonadal dysgenesis-associated anomalies syndrome Diazoxide-resistant diffuse hyperinsulinism 46,XX testicular difference of sex development Meacham syndrome Neonatal iodine exposure Aldosterone-producing adenoma Eiken syndrome Smith-Lemli-Opitz syndrome Familial peripheral male-limited precocious puberty Rare hyperthyroidism Hydrocephalus-obesity-hypogonadism syndrome Fetal iodine syndrome CHARGE syndrome 46,XY partial gonadal dysgenesis Ulnar-mammary syndrome 45,X/46,XY mixed gonadal dysgenesis Acromegaly Adrenocortical carcinoma Primary pigmented nodular adrenocortical disease Testicular agenesis Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome Diazoxide-sensitive diffuse hyperinsulinism Campomelic dysplasia X-linked central congenital hypothyroidism with late-onset testicular enlargement 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 Perrault syndrome Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome Difference of sex development-intellectual disability syndrome Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency Endogenous Cushing syndrome Exercise-induced hyperinsulinism Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome Distal deletion 9p Autoimmune polyendocrinopathy type 2 Anaplastic thyroid carcinoma Hyperinsulinism-hyperammonemia syndrome MODY Congenital hypogonadotropic hypogonadism Hyperandrogenism due to cortisone reductase deficiency Short stature due to partial GHR deficiency Cushing syndrome Kallmann syndrome-heart disease syndrome Neonatal severe primary hyperparathyroidism Pituitary resistance to thyroid hormone Congenital adrenal hyperplasia Differentiated thyroid carcinoma Adrenogenital syndrome ANE syndrome Adrenal Cushing syndrome Sudden infant death-dysgenesis of the testes syndrome Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome Hypocalcemic vitamin D-dependent rickets Transient congenital hypothyroidism due to maternal factor 46,XX difference of sex development induced by androgens excess Temple syndrome Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency Intermediate DEND syndrome Familial hyperthyroidism due to mutations in TSH receptor Short stature due to GHSR deficiency McCune-Albright syndrome Rare primary hyperaldosteronism Transient congenital hypothyroidism due to neonatal factor Carpenter syndrome 46,XY difference of sex development Primary congenital hypothyroidism Primary bone dysplasia with defective bone mineralization Rare hypoaldosteronism Septo-optic dysplasia spectrum Syndrome with 46,XY difference of sex development Sporadic pheochromocytoma/secreting paraganglioma Pituitary stalk interruption syndrome Hereditary pheochromocytoma-paraganglioma Disease associated with non-acquired combined pituitary hormone deficiency 46,XY difference of sex development due to a defect in testosterone metabolism by peripheral tissue Autosomal recessive hypophosphatemic rickets Adrenomyodystrophy Permanent congenital hypothyroidism Pendred syndrome Cataract-intellectual disability-hypogonadism syndrome Sporadic secreting paraganglioma Central congenital hypothyroidism MORM syndrome SHORT syndrome Hypophosphatasia Hypophosphatemic rickets DEND syndrome Testicular regression syndrome Growth delay due to insulin-like growth factor type 1 deficiency Addison disease Congenital isolated ACTH deficiency Muscular pseudohypertrophy-hypothyroidism syndrome Wolcott-Rallison syndrome Insulinoma Growth delay due to insulin-like growth factor I resistance Hypothyroidism due to deficient transcription factors involved in pituitary development or function Primary hyperaldosteronism-seizures-neurological abnormalities syndrome Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations Congenital hypothyroidism Distal 16p11.2 microdeletion syndrome Adrenocortical carcinoma with pure aldosterone hypersecretion 46,XX difference of sex development induced by maternal-derived androgen Catecholamine-producing tumor Osteosclerosis-ichthyosis-premature ovarian failure syndrome PAGOD syndrome Peripheral hypothyroidism 46,XX disorder of gonadal development MEHMO syndrome Craniopharyngioma Achondroplasia 48,XXYY syndrome Rare endocrine growth disease Isolated thyrotropin-releasing hormone deficiency Dominant hypophosphatemia with nephrolithiasis or osteoporosis Complete androgen insensitivity syndrome 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature Short stature due to primary acid-labile subunit deficiency 46,XY difference of sex development due to testicular steroidogenesis defect Acute adrenal insufficiency Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome Isolated growth hormone deficiency type II Non-acquired pituitary hormone deficiency Combined pituitary hormone deficiencies, genetic forms Generalized glucocorticoid resistance syndrome Congenital hyperinsulinism due to HNF4A deficiency Von Hippel-Lindau disease Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Familial hypoaldosteronism Hypochondroplasia Sex chromosome difference of sex development Non-acquired combined pituitary hormone deficiency 46,XX difference of sex development induced by endogenous maternal-derived androgen Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies Blepharophimosis-intellectual disability syndrome, SBBYS type