SE-ATLAS

Tetragametischer Chimärismus Hypothyreose, kongenitale, durch heterozygote THOX2-Genmutationen Hypogonadotroper Hypogonadismus - schwere Mikrozephalie - Sensorineurale Schwerhörigkeit - Dysmorphien AREDYLD-Syndrom Tumor, Aldosteron-produzierender ektopischer Papilläres Schilddrüsenkarzinom mit papillärem Nierenzellkarzinom X-chromosomale Lissenzephalie mit Genitalanomalien Autoimmun-Polyendokrinopathie Typ 1 Adrenoleukodystrophie, X-chromosomale Hypothyreose, kongenitale, durch mütterliche Einnahme von Thyreostatica Thiamin-responsive megaloblastäre Anämie mit Diabetes mellitus und sensorineuraler Schwerhörigkeit Adrenoleukodystrophie, neonatale Form Störung der Geschlechtsentwicklung 46,XX, induziert durch fetoplazentalen Androgenexzess Kleinwuchs, mikrozephaler osteodysplastischer primordialer, Typ II Seltene chirurgisch korrigierbar Formen des primären Hyperaldosteronismus Diabetes mellitus, neonataler transienter Apparenter Mineralocorticoid Exzess Diabetes mellitus, isolierter neonataler permanenter Wilson-Turner-Syndrom Penisagenesie Schilddrüsenkrankheit, genetisch bedingte, seltene Triple-A-Syndrom Störung des Hypophysenvorderlappens-variables Immundefekt-Syndrom Adipositas, syndromale Seltene chirurgisch nicht korrigierbar Formen des primären Hyperaldosteronismus Cushing-Syndrom, ACTH-abhängiges Cushing-Syndrom durch ektopische ACTH-Produktion Hypogonadotroper Hypogonadismus-Retinitis pigmentosa-Syndrom Hypothyreose, kongenitale transiente Wolfram-Syndrom Hypophosphatämie, X-chromosomale Hyperinsulinismus, kongenitaler, durch Glukokinase-Mangel Woodhouse-Sakati-Syndrom Hyperinsulinismus, fokaler, Diazoxid-resistanter Coffin-Lowry-Syndrom Cushing-Syndrom, ACTH-unabhängiges Rachitis, hypophosphatämische, autosomal-dominante Cohen-Syndrom Chondrodysplasie-Variante der Geschlechtsentwicklung-Syndrom Laurence-Moon-Syndrom Allan-Herndon-Dudley-Syndrom Syndrom der schnell einsetzenden Adipositas im Kindesalter mit hypothalamischer Dysfunktion, Hypoventilation und autonomer Dysregulation Störung der Geschlechtsentwicklung 46,XY, bei gestörter Androgenproduktion Kleinwuchs-Hypophysen- und zerebelläre Defekte-kleine Sella turcica-Syndrom Turner-Syndrom Intelligenzminderung-Krämpfe-Makrozephalie-Adipositas-Syndrom Störung der Geschlechtsentwicklung 46,XY, endokrinen Ursprungs Schilddrüsenkarzinom, papilläres oder follikuläres, familiäre Form IMAGe-Syndrom Pseudohypoparathyreoidismus Typ 1C Alström-Syndrom Pseudohypoparathyreoidismus Typ 1A Adipositas, genetisch-bedingte nicht-syndromale Pseudopseudohypoparathyreoidismus Isoliertes familiäres medulläres Schilddrüsenkarzinom Lipodystrophie, familiäre partielle, PLIN1-abhängige Hypothyreose, adulte, seltene Hyposmie-nasale und okuläre Hypoplasie-hypogonadotroper Hypogonadismus-Syndrom Kallmann-Syndrom Diabetes mellitus, seltener Störung der Geschlechtsentwicklung Schilddrüsenkrankheit, seltene Schilddrüsenkarzinom, nicht-medulläres, familiäre Form Störung der Geschlechtsentwicklung 46,XY, durch 17-beta-Hydroxysteroid-Dehydrogenase 3-Mangel Nebennierenkrankheit, seltene Autoimmun-Polyendokrinopathie Typ 3 Störung der Geschlechtsentwicklung 46,XY, durch 5-Alpha-Reduktase 2-Mangel Mikrodeletionssyndrom Xq21 Hypophysenfunktionsstörung Androgeninsensitivitätssyndrom Wachstumshormonmangel, isolierter, Typ IA Familiärer multinodulärer Kropf Pankreashypoplasie-Diabetes-kongenitaler Herzfehler-Syndrom Hypothyreose, syndromale Leydig-Zell-Hypoplasie Störung der Geschlechtsentwicklung 46,XX, induziert durch exogenes Androgen maternalen Ursprungs Frasier-Syndrom Nebenniereninsuffizienz, chronische primäre WAGR-Syndrom Lipodystrophie-Intelligenzminderung-Schwerhörigkeit-Syndrom Nebenniereninsuffizienz, primäre SERKAL-Syndrom 46,XX-DSD induziert durch fetalen Androgenexzess Laminopathie, lipodystrophe, schwere, autosomal-dominante Störung der Geschlechtsentwicklung 46,XY, durch Cholesterol-Synthese-Defekt Nebenniereninsuffizienz, chronische primäre, genetisch bedingte Pubertas praecox, zentrale Müller-Gang-Aplasie und Hyperandrogenismus Nebenniereninsuffizienz, chronische primäre, erworbene Hypertrichose, pigmentierte, mit Insulin-abhängigen Diabetes mellitus-Syndrom Aromatase-Exzess-Syndrom Wachstumshormonmangel, isolierter, Typ IB Primäre Mikrozephalie-Epilepsie-permanenter neonataler Diabetes-Syndrom 46,XY-DSD durch Testosteron-Synthese-Defekt Denys-Drash-Syndrom Generalisierte Resistenz gegen Schilddrüsenhormone Syndrome mit Störung der Geschlechtsentwicklung 46,XX 46,XY-DSD durch Defekt der adrenalen und testikulären Steroidogenese Wachstumshormonmangel, isolierter, nicht erworbener Rachitis, hypokalzämische Adipositas, genetisch bedingte Rabson-Mendenhall-Syndrom Diabetes mellitus, neonataler Laron-Syndrom Glukokortikoid-Mangel, familiärer Familiäre Nebennierenhypoplasie mit fehlendem hypophysären luteinisierenden Hormon Nebennierenhyperplasie, kongenitale lipoide, durch STAR-Mangel Maternal vererbter Diabetes mit Schwerhörigkeit Ataxie-Hypogonadismus-chorioretinale Dystrophie-Syndrom Nebennierenhyperplasie, kongenitale, durch Cytochrom-P450-Oxydoreduktase-Mangel Störung des Vitamin D-Stoffwechels Nebennierenhypoplasie, kongenitale, X-chromosomale Nebennierenhyperplasie, kongenitale, durch 3-beta-Hydroxysteroid-Dehydrogenase-Mangel Aromatase-Mangel Waterhouse-Friderichsen-Syndrom Nierenhypoplasie, kongenitale, maternalen Ursprungs Intelligenzminderung-Adipositas-Hirnfehlbildungen-Gesichtsdysmorphie-Syndrom Störung der Geschlechtsentwicklung 46,XX, ovotestikuläre 46,XY Störung der Gonadenentwicklung Nebennierenhyperplasie, kongenitale, durch 21-Hydroxylase-Mangel, klassische Form Polyzythämie-Phäochromozytom-/Paragangliom-Syndrom, EPAS1-assoziierts Nebennierenhyperplasie, kongenitale, durch 17-alpha-Hydroxylase-Mangel Hyperinsulinismus durch UCP2-Mangel Wolfram-ähnliches Syndrom Rachitis, hypophosphatämische, mit Hyperkalziurie Kurzer fünfter Mittelhandknochen-Insulinresistenz-Syndrom Störung der Geschlechtsentwicklung 46,XY, durch isolierten 17,20-Lyase-Mangel Androgen-Insensivitäts-Syndrom, partielles Sichelzellkrankheit Nebennierenhyperplasie, kongenitale, durch 11-beta-Hydroxylase-Mangel Seltene vorzeitige erworbene Ovarialinsuffizienz Cushing-Krankheit Seltene Form der vorzeitigen Pubertät Donohue-Syndrom Anophthalmie/Mikrophthalmie-Ösophagusatresie-Syndrom Kongenitale Hypothyreose durch Entwicklungsanomalie Dysmorphien-Kleinwuchs-Schwerhörigkeit-Störung der Geschlechtsentwicklung-Syndrom 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 Muscular pseudohypertrophy-hypothyroidism syndrome Wolcott-Rallison syndrome Insulinoma Growth delay due to insulin-like growth factor I resistance Primary hyperaldosteronism-seizures-neurological abnormalities syndrome Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations Congenital hypothyroidism Hypothyroidism due to deficient transcription factors involved in pituitary development or function 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 PAGOD syndrome Osteosclerosis-ichthyosis-premature ovarian failure syndrome Peripheral hypothyroidism Craniopharyngioma 46,XX disorder of gonadal development MEHMO syndrome Achondroplasia Rare endocrine growth disease Dominant hypophosphatemia with nephrolithiasis or osteoporosis 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome Short stature due to primary acid-labile subunit deficiency Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome Isolated growth hormone deficiency type II Non-acquired pituitary hormone deficiency Isolated thyrotropin-releasing hormone deficiency Complete androgen insensitivity syndrome Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature 46,XY difference of sex development due to testicular steroidogenesis defect Acute adrenal insufficiency 48,XXYY syndrome Generalized glucocorticoid resistance syndrome Multiple endocrine neoplasia type 2A 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 Congenital hyperinsulinism due to HNF4A deficiency Multiple endocrine neoplasia type 2B Familial hypoaldosteronism Combined pituitary hormone deficiencies, genetic forms Sex chromosome difference of sex development Von Hippel-Lindau disease Hypochondroplasia