SE-ATLAS

Genetic transient congenital hypothyroidism Tetragametic chimerism Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome AREDYLD syndrome Familial papillary thyroid carcinoma with renal papillary neoplasia Ectopic aldosterone-producing tumor X-linked lissencephaly with abnormal genitalia X-linked adrenoleukodystrophy Autoimmune polyendocrinopathy type 1 Congenital hypothyroidism due to maternal intake of antithyroid drugs Thiamine-responsive megaloblastic anemia syndrome Neonatal adrenoleukodystrophy 46,XX difference of sex development induced by fetoplacental androgens excess Microcephalic osteodysplastic primordial dwarfism type II Rare surgically correctable form of primary aldosteronism Transient neonatal diabetes mellitus Blepharophimosis-intellectual disability syndrome, SBBYS type Apparent mineralocorticoid excess Isolated permanent neonatal diabetes mellitus Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome Penile agenesis Wilson-Turner syndrome Deficiency in anterior pituitary function-variable immunodeficiency syndrome Rare genetic thyroid disease Triple A syndrome Short stature due to primary acid-labile subunit deficiency Syndromic obesity Rare non surgically correctable form of primary aldosteronism Cushing syndrome due to ectopic ACTH secretion ACTH-dependent Cushing syndrome Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome X-linked hypophosphatemia Transient congenital hypothyroidism Wolfram syndrome Woodhouse-Sakati syndrome Congenital glucokinase-related hyperinsulinism Diazoxide-resistant focal hyperinsulinism ACTH-independent Cushing syndrome Coffin-Lowry syndrome Autosomal dominant hypophosphatemic rickets Cohen syndrome Prader-Willi syndrome Non-acquired combined pituitary hormone deficiency Chondrodysplasia-difference of sex development syndrome Laurence-Moon syndrome Allan-Herndon-Dudley syndrome Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome 46,XY difference of sex development due to impaired androgen production Short stature-pituitary and cerebellar defects-small sella turcica syndrome Intellectual disability-seizures-macrocephaly-obesity syndrome 46,XY difference of sex development of endocrine origin Turner syndrome Pseudohypoparathyroidism type 1C IMAGe syndrome Familial papillary or follicular thyroid carcinoma Alström syndrome Pseudohypoparathyroidism type 1A Pseudopseudohypoparathyroidism Genetic non-syndromic obesity Familial medullary thyroid carcinoma PLIN1-related familial partial lipodystrophy Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome Rare adult hypothyroidism Rare diabetes mellitus Kallmann syndrome 46,XX difference of sex development induced by endogenous maternal-derived androgen Difference of sex development Rare thyroid disease Familial nonmedullary thyroid carcinoma 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency Rare adrenal disease Xq21 microdeletion syndrome Autoimmune polyendocrinopathy type 3 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency Pituitary deficiency Androgen insensitivity syndrome Acute adrenal insufficiency Pancreatic hypoplasia-diabetes-congenital heart disease syndrome Isolated growth hormone deficiency type IA Familial multinodular goiter Leydig cell hypoplasia Syndromic hypothyroidism 46,XX difference of sex development induced by exogenous maternal-derived androgen Chronic primary adrenal insufficiency MAGEL2-related Prader-Willi-like syndrome Von Hippel-Lindau disease Frasier syndrome Lipodystrophy-intellectual disability-deafness syndrome WAGR syndrome Primary adrenal insufficiency SERKAL syndrome 46,XX difference of sex development induced by fetal androgens excess Genetic chronic primary adrenal insufficiency Autosomal semi-dominant severe lipodystrophic laminopathy 46,XY difference of sex development due to a cholesterol synthesis defect Central precocious puberty Acquired chronic primary adrenal insufficiency Müllerian aplasia and hyperandrogenism Aromatase excess syndrome Pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome Isolated growth hormone deficiency type IB Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome Denys-Drash syndrome 46,XY difference of sex development due to a testosterone synthesis defect Generalized resistance to thyroid hormone Congenital hyperinsulinism due to HNF4A deficiency 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 SIM1-related Prader-Willi-like syndrome Genetic obesity Hypocalcemic rickets Prader-Willi-like syndrome Rabson-Mendenhall syndrome Neonatal diabetes mellitus Laron syndrome Familial glucocorticoid deficiency 46,XY difference of sex development due to testicular steroidogenesis defect Familial adrenal hypoplasia with absent pituitary luteinizing hormone Congenital lipoid adrenal hyperplasia due to STAR deficency Ataxia-hypogonadism-choroidal dystrophy syndrome Maternally-inherited diabetes and deafness Isolated growth hormone deficiency type II 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 Congenital adrenal hypoplasia of maternal cause Waterhouse-Friderichsen syndrome 46,XX ovotesticular difference of sex development Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome 46,XY disorder of gonadal development Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency Multiple paragangliomas associated with polycythemia Wolfram-like syndrome Hyperinsulinism due to UCP2 deficiency Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency Hereditary hypophosphatemic rickets with hypercalciuria 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 Non-acquired premature ovarian failure Rubinstein-Taybi syndrome Athyreosis 46,XY difference of sex development induced by maternal exposure to endocrine disruptors Isolated growth hormone deficiency type III Thyroid ectopia Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies Generalized glucocorticoid resistance syndrome 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 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome Multiple endocrine neoplasia type 2 Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies syndrome Thyroid hemiagenesis MOMO syndrome Generalized congenital lipodystrophy with myopathy Congenital thyroid malformation without hypothyroidism Hypothyroidism due to TSH receptor mutations 49,XXXXY syndrome Autosomal dominant hyperinsulinism due to SUR1 deficiency Bardet-Biedl syndrome 46,XX difference of sex development-skeletal anomalies syndrome Congenital isolated hyperinsulinism 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 Multiple endocrine neoplasia 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency Autosomal dominant hyperinsulinism due to Kir6.2 deficiency Familial hyperaldosteronism Corticosteroid-binding globulin deficiency Rare thyroid tumor Cushing syndrome due to bilateral macronodular adrenocortical disease Pituitary adenoma Acquired generalized lipodystrophy Rare diabetes mellitus type 2 Insulin-resistance syndrome type A Multiple endocrine neoplasia type 4 Familial thyroglossal duct cyst Insulin-resistance syndrome type B Diazoxide-resistant hyperinsulinism Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome Adrenal/paraganglial tumor Familial gestational hyperthyroidism Isolated follicle stimulating hormone deficiency 46,XX difference of sex development 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome 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 Isolated thyrotropin-releasing hormone deficiency 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 Rare endocrine growth disease 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 Familial hyperaldosteronism type II Growth hormone insensitivity syndrome Carney complex Non-acquired panhypopituitarism 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 Fetal iodine syndrome Hydrocephalus-obesity-hypogonadism syndrome CHARGE syndrome 46,XY partial gonadal dysgenesis Ulnar-mammary syndrome Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature Acromegaly Adrenocortical carcinoma 45,X/46,XY mixed gonadal dysgenesis Primary pigmented nodular adrenocortical disease Diazoxide-sensitive diffuse hyperinsulinism Complete androgen insensitivity syndrome Campomelic dysplasia Testicular agenesis Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome 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 Syndrome de différence du développement sexuel 46,XX-anomalies anorectales Rachitisme hypocalcémique résistant à la vitamine D Syndrome cerveau-poumon-thyroïde Syndrome de Perrault Syndrome de microdélétion 6q16 Syndrome de dysplasie ectodermique-hypohidrose-hypothyroïdie-dyskinésie ciliaire Syndrome différence du développement sexuel-déficience intellectuelle Différence du développement sexuel due à une différence des chromosomes sexuels Hyperinsulinisme focal résistant au diazoxide par déficit en Kir6.2 Hyperinsulinisme induit par l'effort Syndrome de kératodermie palmoplantaire-ambiguïté sexuelle XX-prédisposition au carcinome spinocellulaire Syndrome de Cushing endogène Délétion distale 9p Cancer anaplasique de la thyroïde Polyendocrinopathie auto-immune type 2 Syndrome d'hyperinsulinisme et hyperammoniémie Hypogonadisme hypogonadotrope congénital MODY Petite taille par déficit en GHR Hyperandrogénie par déficit en cortisone réductase Syndrome de Kallmann-cardiopathie Syndrome de Cushing Hyperparathyroïdie primitive sévère néonatale Résistance hypophysaire aux hormones thyroïdiennes Hyperplasie congénitale des surrénales Cancer différencié de la thyroïde Syndrome adrenogenital Syndrome 48,XXYY Syndrome ANE Syndrome de Cushing surrénalien Syndrome d'acanthosis nigricans-résistance à l'insuline-crampes-hypertrophie acrale Syndrome de mort subite du nourrisson-dysgénésie des testicules Rachitisme hypocalcémique vitamine D-dépendant Hypothyroïdie congénitale transitoire de cause maternelle Différence du développement sexuel 46,XX induite par un excès d'androgènes Syndrome de fibrose pulmonaire-déficit immunitaire-dysgénésie gonadique 46,XX Syndrome de Temple Hyperinsulinisme par déficit en 3-hydroxylacyl-CoA déshydrogénase des acides gras à chaîne courte Insuffisance hypophysaire non acquise Hyperthyroïdie familiale par mutation du récepteur de la TSH Syndrome DEND intermédiaire Petite taille par déficit en GHSR Hyperaldostéronisme primitif rare Syndrome de McCune-Albright Hypothyroïdie congénital transitoire de cause néonatale Hypoaldostéronisme familial Syndrome de Carpenter Différence du développement sexuel 46,XY Hypothyroïdie congénitale primitive Dysplasie osseuse primaire par défaut de minéralisation Hypoaldostéronisme rare Spectre de dysplasie septo-optique Syndrome avec différence du développement sexuel 46,XY Phéochromocytome/paragangliome sécrétant sporadique Rupture de la tige pituitaire Déficits hypohysaires multiples de cause génétique identifée Phéochromocytome-paragangliome héréditaire Maladie associée à une insuffisance hypophysaire multiple non acquise Différence du développement sexuel 46,XY associée à un défaut du métabolisme périphérique de testostérone Hypothyroïdie congénitale permanente Rachitisme hypophosphatémique autosomique récessif Adrénomyodystrophie Syndrome de cataracte-déficience intellectuelle-hypogonadisme Syndrome de Pendred Paragangliome sécrétant sporadique Hypothyroïdie congénitale centrale Syndrome MORM Syndrome SHORT Hypophosphatasie Rachitisme hypophosphatémique Syndrome DEND Anorchidie congénitale isolée Maladie d'Addison Retard de croissance par déficit du facteur de croissance analogue à l'insuline type 1 Hypophosphatémie dominante avec néphrolithiase ou ostéoporose Déficit congénital isolé en ACTH Syndrome de pseudohypertrophie musculaire-hypothyroïdie Syndrome de Wolcott-Rallison Insulinome Retard de croissance par résistance au facteur de croissance analogue à l'insuline type 1 Hypothyroïdie par déficit en facteurs de transcription impliqués dans le développement ou la fonction hypophysaire Syndrome d'hyperaldostéronisme primitif-épilepsie-anomalies neurologiques Hypothyroïdie congénitale Insuffisance hypophysaire multiple non acquise sans malformations extra-hypophysaires associées Syndrome de microdélétion 16p11.2 distale Carcinome corticosurrénalien à hypersécrétion pure d'aldostérone Différence du développement sexuel 46,XX due aux androgènes d'origine maternelle Tumeur sécrétrice de catécholamines Syndrome d'ostéosclérose-ichtyose-insuffisance ovarienne précoce Syndrome PAGOD Hypothyroïdie périphérique Anomalie du développement des gonades 46,XX Syndrome de MEHMO Craniopharyngiome Achondroplasie Hypochondroplasie