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 Seltenes Schilddrüsenkarzinom Pseudo-Leprechaunismus-Syndrom Typ Patterson Triploidie Seltene Krankheit mit Cushing-Syndrom als Hauptmerkmal Neoplasie, endokrine multiple Störung der Geschlechtsentwicklung 46,XY - Nebenniereninsuffizienz, durch CYP11A1-Mangel Hyperinsulinismus durch Kir6.2-Mangel, autosomal-dominanter Hyperaldosteronismus, familiärer CBG (Cortisol-bindendes Globulin)-Mangel Seltener Schilddrüsentumor Cushing-Syndrom durch bilaterale makronoduläre Nebennierenhyperplasie Hypophysenadenom Lipodystrophie, erworbene generalisierte Seltener Diabetes mellitus Typ 2 Insulinresistenz-Syndrom Typ A Neoplasie, endokrine multiple, Typ 4 Fistel, familiäre thyroglossale Insulinresistenz-Syndrom Typ B Hyperinsulinismus, Diazoxid-resistenter Kolobomatöse Mikrophtalmie-Adipositas-Hypogenitalismus-Intelligenzminderung-Syndrom Tumor, adrenaler/paraganglialer Hyperthyreose, familiäre schwangerschaftsbedingte Follicle-Stimulating Hormone (FSH)-Mangel, isolierter Störung der Geschlechtsentwicklung bei 46,XX Karyotyp Gonadendysgenesie 46,XY-Typ - motorisch-sensorische Neuropathie Andere seltene Formen des Diabetes mellitus Lipodystrophie, generalisierte kongenitale Hypogonadotroper Hypogonadismus, isolierter kongenitaler Albright-Osteodystrophie, hereditäre Hypomyelinisierung-Hypogonadotroper Hypogonadismus-Hypodontie-Syndrom Seltene Störung mit multisystemischer Beteiligung und kongenitalen hypogonadotropen Hypogonadismus Nebennierenhyperplasie, primäre unilaterale Thyrotropin-Releasing-Hormon (TRH)-Mangel, isolierter Ossifikationsstörung - psychomotorische Entwicklungsverzögerung Intelligenzminderung-Adipositas-Prognathie-Augen- und Hautanomalien-Syndrom Blepharophimose-Ptosis-Epicanthus inversus-Syndrom Nicht erworbener kombinierter Hypophysenhormon-Mangel-sensorineuraler Hörverlust-spinale Fehlbildungen-Syndrom Wachstumsstörung, hormonelle Hyperinsulinismus durch Kir6.2-Mangel, autosomal-rezessiver Borjeson-Forssman-Lehmann-Syndrom Kleinwuchs - retardiertes Knochenalter, durch stoffwechselbedingten Schilddrüsenhormonmangel Hyperinsulinismus durch SUR1-Mangel, autosomal-rezessiver Müller-Gang-Persistenzsyndrom Hyperinsulinismus, fokaler, Diazoxid-resistenter, durch SUR1-Mangel Bamforth-Lazarus-Syndrom Hyperaldosteronismus, familiärer, Typ III Nebenniereninsuffizienz, isolierte vererbte, durch CYP11A1-Mangel Hyperaldosteronismus, familiärer, Typ I Hypothyreose, seltene Hyperaldosteronismus, familiärer, Typ II Syndrom der Wachstumshormoninsensivität Carney-Komplex Panhypopituitarismus, genetisch bedingter Hyperkalzämie, familiäre hypokalziurische Johanson-Blizzard-Syndrom Thyrotropin-Releasing-Hormon (TRH)-Resistenz Hypothyreose durch periphere Resistenz gegen Schilddrüsenhormone Gonadendysgenesie XY-Typ - multiple Fehlbildungen Hyperinsulinismus, diffuser, Diazoxid-resistenter 46,XX testikuläre Störung der Geschlechtsentwicklung Meacham-Syndrom Neonatale Jodexposition Adenom, Aldosteron-produzierendes Eiken-Syndrom Smith-Lemli-Opitz-Syndrom Vorzeitige männliche Pubertät, familiäre Form Hyperthyreose, seltene Jodmangelsyndrom, fetales Hydrozephalus - Adipositas - Hypogonadismus CHARGE-Syndrom 46,XY-Gonadendysgenesie, partielle Ulna-Mamma-Syndrom Endokrinopathie mit kongenitalen hypogonadotropen Hypogonadismus als Hauptmerkmal Akromegalie Adrenokortikales Karzinom 45,X/46,XY-Gonadendysgenesie, gemischte Primäre pigmentierte noduläre adrenokortikale Krankheit Hyperinsulinismus, diffuser, Diazoxid-sensitiver Androgen-Insensitivität, komplette Dysplasie, kampomele Testikuläre Agenesie Adipositas - Kolitis - Hypothyreoidismus - Herzhypertrophie - Entwicklungsverzögerung X-chromosomale kongenitale zentrale Hypothyreose mit spät-beginnender testikulärer Vergrößerung 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 6q16 microdeletion syndrome Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome Difference of sex development-intellectual disability syndrome Sex chromosome difference of sex development Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency Exercise-induced hyperinsulinism Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome 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 Pituitary resistance to thyroid hormone Congenital adrenal hyperplasia Differentiated thyroid carcinoma Adrenogenital syndrome 48,XXYY syndrome ANE syndrome Adrenal Cushing syndrome Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome Sudden infant death-dysgenesis of the testes syndrome Hypocalcemic vitamin D-dependent rickets Transient congenital hypothyroidism due to maternal factor 46,XX difference of sex development induced by androgens excess Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome Temple syndrome Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency Non-acquired pituitary hormone 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 Familial hypoaldosteronism 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 Combined pituitary hormone deficiencies, genetic forms 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 Permanent congenital hypothyroidism Autosomal recessive hypophosphatemic rickets Adrenomyodystrophy Cataract-intellectual disability-hypogonadism syndrome Pendred syndrome Sporadic secreting paraganglioma Central congenital hypothyroidism MORM syndrome SHORT syndrome Hypophosphatasia Hypophosphatemic rickets DEND syndrome Testicular regression syndrome Addison disease Growth delay due to insulin-like growth factor type 1 deficiency Dominant hypophosphatemia with nephrolithiasis or osteoporosis 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 Congenital hypothyroidism Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations 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 Hypochondroplasia