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 Neonatal adrenoleukodystrophy Thiamine-responsive megaloblastic anemia syndrome 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 Isolated permanent neonatal diabetes mellitus Apparent mineralocorticoid excess Penile agenesis Wilson-Turner syndrome Deficiency in anterior pituitary function-variable immunodeficiency syndrome Rare genetic thyroid disease Triple A syndrome 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 ACTH-independent Cushing syndrome Coffin-Lowry syndrome Diazoxide-resistant focal hyperinsulinism Autosomal dominant hypophosphatemic rickets Cohen syndrome Laurence-Moon syndrome Chondrodysplasia-difference of sex development 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 46,XY difference of sex development of endocrine origin Intellectual disability-seizures-macrocephaly-obesity syndrome 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 Rare thyroid disease Difference of sex development Familial nonmedullary thyroid carcinoma 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency Rare adrenal disease Pituitary deficiency Autoimmune polyendocrinopathy type 3 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency Xq21 microdeletion syndrome Androgen insensitivity syndrome Pancreatic hypoplasia-diabetes-congenital heart disease syndrome Isolated growth hormone deficiency type IA Familial multinodular goiter Leydig cell hypoplasia Syndromic hypothyroidism Chronic primary adrenal insufficiency Frasier syndrome 46,XX difference of sex development induced by exogenous maternal-derived androgen Lipodystrophy-intellectual disability-deafness syndrome WAGR syndrome Primary adrenal insufficiency 46,XX difference of sex development induced by fetal androgens excess SERKAL syndrome 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 Generalized resistance to thyroid hormone 46,XY difference of sex development due to a testosterone synthesis defect Denys-Drash syndrome 46,XY difference of sex development due to adrenal and testicular steroidogenesis defect Syndrome with 46,XX difference of sex development Non-acquired isolated growth hormone deficiency Genetic obesity Hypocalcemic rickets Rabson-Mendenhall syndrome Laron syndrome 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 Cushing-Syndrom, endogenes Hyperinsulinismus, anstrengungsinduzierter Palmoplantarkeratose-XX-Geschlechtsumkehr-Prädisposition für Plattenepithelkarzinom-Syndrom Distale Deletion 9p Autoimmun-Polyendokrinopathie Typ 2 Schilddrüsenkarzinom, anaplastisches Hyperinsulinismus-Hyperammonämie-Syndrom MODY Hypogonadotroper Hypogonadismus, kongenitaler Hyperandrogenismus durch Cortison-Reduktase-Mangel Kleinwuchs durch partiellen GHR-Mangel Cushing-Syndrom Kallmann-Syndrom - Kardiopathie Hyperparathyroidismus, neonataler primärer schwerer Hypophysen-Resistenz gegen Schilddrüsenhormone Nebennierenhyperplasie, kongenitale Schilddrüsenkarzinom, differenziertes Adrenogenitales Syndrom ANE-Syndrom Adrenales Cushing-Syndrom Plötzlicher Kindstod - Hodendysgenesie Acanthosis nigricans-Insulinresistenz-Muskelkrämpfe Akrenvergrößerung-Syndrom Rachitis, hypokalzämische, Vitamin D-abhängige Hypothyreose, kongenitale transiente, durch maternalen Faktor 46,XX-DSD induziert durch Androgenexzess Temple-Syndrom Lungenfibrose - Immundefekt - Gonadendysgenesie Hyperinsulinismus durch Kurzketten-3-Hydroxyacyl-CoA-Dehydrogenase-Mangel Intermediäres DEND-Syndrom Hyperthyreose durch TSH-Rezeptor-Genmutationen, familiäre Form Kleinwuchs durch GHSR-Mangel McCune-Albright-Syndrom Hyperaldosteronismus, primärer, seltener Hypothyreose, kongenitale transiente, durch neonatalen Faktor Carpenter-Syndrom Störung der Geschlechtsentwicklun 46,XY Hypothyreose, kongenitale primäre Primäre Knochendysplasie mit Knochenmineralisationsdefekt Hypoaldosteronismus, seltener Septo-optische Dysplasie-Spektrum Syndrome mit Störung der Geschlechtsentwicklung 46,XY Sporadisches Phaeochromozytom/sezernierendes Paragangliom Hypophysenstieldurchtrennung, isolierte Phäochromozytom-Paragangliom-Syndrom, hereditäres Hypophysenhormon-Mangel, nicht erworbener, kombinierter, mit assoziierten Fehlbildungen Störung der Geschlechtsentwicklung 46,XY, durch Defekt des Testosteron-Stoffwechsels im peripheren Gewebe Rachitis, hypophosphatämische, autosomal-rezessive Adrenomyodystrophie Hypothyreose, kongenitale permanente Pendred-Syndrom Katarakt-Intelligenzminderung-Hypogonadismus-Syndrom Paragangliom, sezernierendes sporadisches Hypothyreose, kongenitale zentrale MORM-Syndrom SHORT-Syndrom Hypophosphatasie Hypophosphatämische Rachitis DEND-Syndrom Testikuläres Regressionssyndrom Wachstumsverzögerung durch IGF-1 (insulin-like growth factor I)-Mangel Addison-Krankheit ACTH-Mangel, isolierter, kongenitaler Muskelpseudohypertrophie - Hypothyreose Wolcott-Rallison-Syndrom Insulinom Wachstumsverzögerung durch IGF-1-Resistenz Hypothyreose durch Mangel von Transkriptionsfaktoren zur Entwicklung oder Funktion der Hypophyse Primärer Hyperaldosteronismus-Krämpfe-Neurologische Anomalien-Syndrom Hypophysenhormon-Mangel, nicht erworbener, kombinierter, ohne assoziierte extrahypophysäre Fehlbildung Hypothyreose, kongenitale Mikrodeletionssyndrom 16p11.2, distal Adrenokortikales Karzinom mit isolierter Aldosteron-Hypersekretion 46,XX-DSD, Androgen-induzierter, maternalen Ursprungs Katecholamin-produzierender Tumor Osteosklerose - Ichthyose - vorzeitige Ovarialinsuffizienz PAGOD-Syndrom Hypothyreose, periphere 46,XX Störung der Gonadenentwicklung MEHMO-Syndrom Kraniopharyngeom Achondroplasie 48,XXYY-Syndrom Wachstumsstörung, hormonelle Thyrotropin-Releasing-Hormon (TRH)-Mangel, isolierter Dominante Hypophosphatämie mit Nephrolithiasis oder Osteoporose Androgen-Insensitivität, komplette Gonadendysgenesie 46,XY-Typ - motorisch-sensorische Neuropathie Endokrinopathie mit kongenitalen hypogonadotropen Hypogonadismus als Hauptmerkmal Kleinwuchs durch primären Mangel der säurelabilen Untereinheit 46,XY-DSD durch testikulären Steroidogenese-Defekt Nebenniereninsuffizienz, akute Hypogonadotroper Hypogonadismus - frontoparietale Alopezie Wachstumshormonmangel, isolierter, Typ II Hypophysenhormon-Mangel, nicht erworbener Hypophysenhormon-Mangel, kombinierter, genetisch bedingte Formen Glukokortikoid-Resistenz, generalisierte Hyperinsulinismus durch HNF4A-Mangel Von-Hippel-Lindau-Krankheit Multiple endokrine Neoplasie Typ 2A Multiple endokrine Neoplasie Typ 2B Hypoaldosteronismus, familiärer Hypochondroplasie Störung der Geschlechtsentwicklung mit aberranten Geschlechtschromosomen 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