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 Apparent mineralocorticoid excess Isolated permanent neonatal diabetes mellitus 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 Wolfram syndrome X-linked hypophosphatemia Transient congenital hypothyroidism Woodhouse-Sakati syndrome Congenital glucokinase-related hyperinsulinism Coffin-Lowry syndrome Diazoxide-resistant focal hyperinsulinism ACTH-independent Cushing syndrome 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 Intellectual disability-seizures-macrocephaly-obesity syndrome 46,XY difference of sex development of endocrine origin Turner syndrome IMAGe syndrome Pseudohypoparathyroidism type 1C 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 Kallmann syndrome Rare diabetes mellitus 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 Xq21 microdeletion syndrome Pituitary deficiency Autoimmune polyendocrinopathy type 3 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency Androgen insensitivity syndrome Pancreatic hypoplasia-diabetes-congenital heart disease syndrome Isolated growth hormone deficiency type IA Familial multinodular goiter Leydig cell hypoplasia Syndromic hypothyroidism Frasier syndrome 46,XX difference of sex development induced by exogenous maternal-derived androgen Chronic primary adrenal insufficiency 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 Generalized resistance to thyroid hormone Denys-Drash syndrome 46,XY difference of sex development due to a testosterone synthesis defect 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 Genetic obesity Hypocalcemic rickets 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 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 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome Congenital adrenal hypoplasia of maternal cause Waterhouse-Friderichsen syndrome 46,XY disorder of gonadal development Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency Multiple paragangliomas associated with polycythemia Hyperinsulinism due to UCP2 deficiency Hereditary hypophosphatemic rickets with hypercalciuria Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency Wolfram-like syndrome 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 Rare diabetes mellitus type 1 Medullary thyroid carcinoma Primary congenital hypothyroidism without thyroid developmental anomaly Hyperinsulinism due to HNF1A deficiency Rare insulin-resistance syndrome 46,XY complete gonadal dysgenesis Idiopathic congenital hypothyroidism 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 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 Congenital isolated hyperinsulinism Thyroid hypoplasia Isolated thyroid-stimulating hormone deficiency 46,XX difference of sex development-skeletal anomalies syndrome 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 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 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 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 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 Hydrocephalus-obesity-hypogonadism syndrome Fetal iodine syndrome CHARGE syndrome 46,XY partial gonadal dysgenesis Ulnar-mammary syndrome Adrenocortical carcinoma 45,X/46,XY mixed gonadal dysgenesis Acromegaly Primary pigmented nodular adrenocortical disease Diazoxide-sensitive diffuse hyperinsulinism 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 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 Exercise-induced hyperinsulinism Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome Endogenous Cushing syndrome Distal deletion 9p Autoimmune polyendocrinopathy type 2 Anaplastic thyroid carcinoma 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 ANE syndrome Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome Adrenal Cushing 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 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 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 Hereditary pheochromocytoma-paraganglioma Disease associated with non-acquired combined pituitary hormone deficiency Autosomal recessive hypophosphatemic rickets 46,XY difference of sex development due to a defect in testosterone metabolism by peripheral tissue Adrenomyodystrophy Permanent congenital hypothyroidism Sporadic secreting paraganglioma Cataract-intellectual disability-hypogonadism syndrome Pendred syndrome 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 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 MEHMO syndrome Craniopharyngioma 46,XX disorder of gonadal development Achondroplasia 48,XXYY syndrome Isolated thyrotropin-releasing hormone deficiency Complete androgen insensitivity syndrome Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature Acute adrenal insufficiency Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome Isolated growth hormone deficiency type II Non-acquired pituitary hormone deficiency 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 46,XY difference of sex development due to testicular steroidogenesis defect Combined pituitary hormone deficiencies, genetic forms Congenital hyperinsulinism due to HNF4A deficiency Familial hypoaldosteronism Hypochondroplasia 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 Generalized glucocorticoid resistance syndrome Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Sex chromosome difference of sex development Blepharophimosis-intellectual disability syndrome, SBBYS type Von Hippel-Lindau disease Kein Name gefunden