SE-ATLAS

Tetragametic chimerism Genetic transient congenital hypothyroidism Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome AREDYLD syndrome Ectopic aldosterone-producing tumor Familial papillary thyroid carcinoma with renal papillary neoplasia X-linked lissencephaly with abnormal genitalia Autoimmune polyendocrinopathy type 1 X-linked adrenoleukodystrophy 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 Apparent mineralocorticoid excess Isolated permanent neonatal diabetes mellitus Wilson-Turner syndrome Penile agenesis Rare genetic thyroid disease Triple A syndrome Deficiency in anterior pituitary function-variable immunodeficiency syndrome Syndromic obesity Rare non surgically correctable form of primary aldosteronism ACTH-dependent Cushing syndrome Cushing syndrome due to ectopic ACTH secretion Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome Transient congenital hypothyroidism Wolfram syndrome X-linked hypophosphatemia Congenital glucokinase-related hyperinsulinism Woodhouse-Sakati syndrome Diazoxide-resistant focal hyperinsulinism Coffin-Lowry syndrome ACTH-independent Cushing syndrome Autosomal dominant hypophosphatemic rickets Cohen syndrome 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 Turner syndrome Intellectual disability-seizures-macrocephaly-obesity syndrome 46,XY difference of sex development of endocrine origin Familial papillary or follicular thyroid carcinoma IMAGe syndrome Pseudohypoparathyroidism type 1C Alström syndrome Pseudohypoparathyroidism type 1A Genetic non-syndromic obesity Pseudopseudohypoparathyroidism Familial medullary thyroid carcinoma PLIN1-related familial partial lipodystrophy Rare adult hypothyroidism Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome Kallmann syndrome Rare diabetes mellitus 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 Autoimmune polyendocrinopathy type 3 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency Xq21 microdeletion syndrome Pituitary deficiency Androgen insensitivity syndrome Isolated growth hormone deficiency type IA Familial multinodular goiter Pancreatic hypoplasia-diabetes-congenital heart disease syndrome Syndromic hypothyroidism Leydig cell hypoplasia 46,XX difference of sex development induced by exogenous maternal-derived androgen Frasier syndrome Chronic primary adrenal insufficiency WAGR syndrome Lipodystrophy-intellectual disability-deafness syndrome Primary adrenal insufficiency SERKAL syndrome 46,XX difference of sex development induced by fetal androgens excess Autosomal semi-dominant severe lipodystrophic laminopathy 46,XY difference of sex development due to a cholesterol synthesis defect Genetic chronic primary adrenal insufficiency Central precocious puberty Müllerian aplasia and hyperandrogenism 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-Syndrom Hyperinsulinismus, fokaler, Diazoxid-resistenter, durch Kir6.2-Mangel Palmoplantarkeratose-XX-Geschlechtsumkehr-Prädisposition für Plattenepithelkarzinom-Syndrom Hyperinsulinismus, anstrengungsinduzierter Cushing-Syndrom, endogenes Distale Deletion 9p Schilddrüsenkarzinom, anaplastisches Autoimmun-Polyendokrinopathie Typ 2 Hyperinsulinismus-Hyperammonämie-Syndrom Hypogonadotroper Hypogonadismus, kongenitaler MODY Kleinwuchs durch partiellen GHR-Mangel Hyperandrogenismus durch Cortison-Reduktase-Mangel Kallmann-Syndrom mit Kardiopathie Cushing-Syndrom Hyperparathyroidismus, neonataler primärer schwerer Nebennierenhyperplasie, kongenitale Hypophysen-Resistenz gegen Schilddrüsenhormone Adrenogenitales Syndrom Schilddrüsenkarzinom, differenziertes ANE-Syndrom Plötzlicher Kindstod mit Hodendysgenesie Acanthosis nigricans-Insulinresistenz-Muskelkrämpfe Akrenvergrößerung-Syndrom Adrenales Cushing-Syndrom Rachitis, hypokalzämische, Vitamin D-abhängige 46,XX-DSD induziert durch Androgenexzess Hypothyreose, kongenitale transiente, durch maternalen Faktor Lungenfibrose-Immundefekt-46,XX-Gonadendysgenesie-Syndrom Temple-Syndrom Hyperinsulinismus durch Kurzketten-3-Hydroxyacyl-CoA-Dehydrogenase-Mangel Hyperthyreose durch TSH-Rezeptor-Genmutationen, familiäre Form Intermediäres DEND-Syndrom Kleinwuchs durch GHSR-Mangel Hyperaldosteronismus, primärer, seltener McCune-Albright-Syndrom Hypothyreose, kongenitale transiente, durch neonatalen Faktor Carpenter-Syndrom Hypothyreose, kongenitale primäre Störung der Geschlechtsentwicklung 46,XY Primäre Knochendysplasie mit Knochenmineralisationsdefekt Hypoaldosteronismus, seltener Syndrome mit Störung der Geschlechtsentwicklung 46,XY Septo-optische Dysplasie-Spektrum Hypophysenstieldurchtrennung, isolierte Sporadisches Phaeochromozytom/sezernierendes Paragangliom Phäochromozytom-Paragangliom-Syndrom, hereditäres Störung der Geschlechtsentwicklung 46,XY, durch Defekt des Testosteron-Stoffwechsels im peripheren Gewebe Adrenomyodystrophie Rachitis, hypophosphatämische, autosomal-rezessive Hypothyreose, kongenitale permanente Hypophysenhormon-Mangel, nicht erworbener, kombinierter, mit assoziierten Fehlbildungen Pendred-Syndrom Katarakt-Intelligenzminderung-Hypogonadismus-Syndrom Paragangliom, sezernierendes sporadisches Hypothyreose, kongenitale zentrale MORM-Syndrom SHORT-Syndrom Hypophosphatasie Hypophosphatämische Rachitis Testikuläres Regressionssyndrom DEND-Syndrom Addison-Krankheit Wachstumsverzögerung durch IGF-1 (insulin-like growth factor I)-Mangel ACTH-Mangel, isolierter, kongenitaler 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