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 Septopreoptic holoprosencephaly Congenital hypothyroidism due to maternal intake of antithyroid drugs Thiamine-responsive megaloblastic anemia syndrome Neonatal adrenoleukodystrophy Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 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 Prader-Willi syndrome due to paternal 15q11q13 deletion Isolated permanent neonatal diabetes mellitus Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome Rare endocrine disease Wilson-Turner syndrome Penile agenesis Rare genetic thyroid disease Deficiency in anterior pituitary function-variable immunodeficiency syndrome Triple A syndrome Syndromic obesity Short stature due to primary acid-labile subunit deficiency Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 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 Bilateral massive adrenal hemorrhage Wolfram syndrome Prader-Willi syndrome due to imprinting mutation Woodhouse-Sakati syndrome Congenital glucokinase-related hyperinsulinism ACTH-independent Cushing syndrome Diazoxide-resistant focal hyperinsulinism Coffin-Lowry syndrome Autosomal dominant hypophosphatemic rickets Cohen syndrome Prader-Willi syndrome Non-acquired combined pituitary hormone deficiency Obesity due to pro-opiomelanocortin deficiency Chondrodysplasia-difference of sex development syndrome Laurence-Moon syndrome Allan-Herndon-Dudley syndrome Obesity due to melanocortin 4 receptor deficiency Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome Obesity due to prohormone convertase I deficiency 46,XY difference of sex development due to impaired androgen production Familial hyperreninemic hypoaldosteronism type 2 Short stature-pituitary and cerebellar defects-small sella turcica syndrome Familial hyperreninemic hypoaldosteronism type 1 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 Genetic non-syndromic obesity Pseudopseudohypoparathyroidism Familial medullary thyroid carcinoma PLIN1-related familial partial lipodystrophy Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome Rare adult hypothyroidism Obesity due to congenital leptin deficiency Kallmann syndrome 46,XX difference of sex development induced by endogenous maternal-derived androgen Rare diabetes mellitus Difference of sex development Rare thyroid disease Perinatal lethal hypophosphatasia Familial nonmedullary thyroid carcinoma 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency Rare adrenal disease Monosomy X 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 Familial multinodular goiter Isolated growth hormone deficiency type IA Acute adrenal insufficiency Pancreatic hypoplasia-diabetes-congenital heart disease syndrome Mosaic monosomy X Syndromic hypothyroidism Leydig cell hypoplasia 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 X-linked intellectual disability with isolated growth hormone deficiency Müllerian aplasia and hyperandrogenism Acquired chronic primary adrenal insufficiency Pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome Aromatase excess syndrome Familial hypocalciuric hypercalcemia type 1 Isolated growth hormone deficiency type IB Cerebellar ataxia-hypogonadism syndrome Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome Short stature due to growth hormone qualitative anomaly 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 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia Prader-Willi-like syndrome Alobar holoprosencephaly Rabson-Mendenhall syndrome Laron syndrome Neonatal diabetes mellitus Familial glucocorticoid deficiency 46,XY difference of sex development due to testicular steroidogenesis defect Congenital lipoid adrenal hyperplasia due to STAR deficency Familial adrenal hypoplasia with absent pituitary luteinizing hormone Prenatal benign hypophosphatasia 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 Fragile X syndrome 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 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 Rare urogenital disease IgG4-related thyroid disease Wolfram-like syndrome Hyperinsulinism due to UCP2 deficiency Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency 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 Blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome Acquired premature ovarian failure Cushing disease Classic congenital lipoid adrenal hyperplasia due to STAR deficency 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 Infantile hypophosphatasia Athyreosis Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form 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 Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency Medullary thyroid carcinoma Primary congenital hypothyroidism without thyroid developmental anomaly Rare diabetes mellitus type 1 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 Leydig cell hypoplasia due to complete LH resistance Hypothyroidism due to TSH receptor mutations Generalized congenital lipodystrophy with myopathy Congenital thyroid malformation without hypothyroidism Blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome Autosomal dominant hyperinsulinism due to SUR1 deficiency 49,XXXXY syndrome Bardet-Biedl syndrome 46,XX difference of sex development-skeletal anomalies syndrome Congenital isolated hyperinsulinism Thyroid hypoplasia Leydig cell hypoplasia due to partial LH resistance Isolated thyroid-stimulating hormone deficiency Rare thyroid carcinoma Pseudoleprechaunism syndrome, Patterson type 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 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency Semilobar holoprosencephaly Familial hyperaldosteronism Corticosteroid-binding globulin deficiency Rare thyroid tumor HNF1B-related autosomal dominant tubulointerstitial kidney disease Cushing syndrome due to bilateral macronodular adrenocortical disease Pituitary adenoma Acquired generalized lipodystrophy Insulin-resistance syndrome type A Multiple endocrine neoplasia type 4 Familial thyroglossal duct cyst Rare diabetes mellitus type 2 Insulin-resistance syndrome type B Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form Diazoxide-resistant hyperinsulinism Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome Adrenal/paraganglial tumor Isolated follicle stimulating hormone deficiency Familial gestational hyperthyroidism 46,XX difference of sex development 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome Familial hypocalciuric hypercalcemia type 2 Other rare diabetes mellitus Congenital generalized lipodystrophy Turner syndrome due to structural X chromosome anomalies Blepharophimosis-epicanthus inversus-ptosis due to copy number variations 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 Obesity due to SIM1 deficiency Familial hypocalciuric hypercalcemia type 3 Isolated thyrotropin-releasing hormone deficiency 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 Rare endocrine growth disease Borjeson-Forssman-Lehmann syndrome Adult hypophosphatasia Autosomal recessive hyperinsulinism due to SUR1 deficiency Short stature-delayed bone age due to thyroid hormone metabolism 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 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 Diazoxide-resistant diffuse hyperinsulinism Obesity due to congenital leptin resistance 46,XX testicular difference of sex development Odontohypophosphatasia Meacham syndrome Neonatal iodine exposure X-linked cerebral adrenoleukodystrophy Aldosterone-producing adenoma Eiken syndrome Familial peripheral male-limited precocious puberty Smith-Lemli-Opitz syndrome Rare hyperthyroidism Fetal iodine syndrome Hydrocephalus-obesity-hypogonadism syndrome CHARGE syndrome 46,XY partial gonadal dysgenesis Ulnar-mammary syndrome Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature Obesity due to leptin receptor gene deficiency Primary pigmented nodular adrenocortical disease Adrenocortical carcinoma 45,X/46,XY mixed gonadal dysgenesis Acromegaly Testicular agenesis Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome Diazoxide-sensitive diffuse hyperinsulinism Complete androgen insensitivity syndrome Campomelic dysplasia X-linked central congenital hypothyroidism with late-onset testicular enlargement Multiple endocrine neoplasia type 1 Brain-lung-thyroid syndrome 46,XY ovotesticular difference of sex development Prader-Willi syndrome due to translocation Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome Childhood-onset hypophosphatasia 46,XX difference of sex development-anorectal anomalies syndrome Hypocalcemic vitamin D-resistant rickets Pallister-Hall syndrome Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency Lobar holoprosencephaly 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 Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome Endogenous Cushing syndrome Exercise-induced hyperinsulinism Distal deletion 9p Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 Anaplastic thyroid carcinoma Autoimmune polyendocrinopathy type 2 Hyperinsulinism-hyperammonemia syndrome Congenital hypogonadotropic hypogonadism MODY Hyperandrogenism due to cortisone reductase deficiency Short stature due to partial GHR deficiency Cushing syndrome Kallmann syndrome-heart disease syndrome Neonatal severe primary hyperparathyroidism Pituitary resistance to thyroid hormone Congenital adrenal hyperplasia Adrenomyeloneuropathy Differentiated thyroid carcinoma Adrenogenital syndrome 48,XXYY syndrome ANE syndrome Adrenal Cushing syndrome Sudden infant death-dysgenesis of the testes syndrome Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome Hypocalcemic vitamin D-dependent rickets 46,XX difference of sex development induced by androgens excess Multiple endocrine neoplasia type 2A 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 Leydig cell hypoplasia due to LHB deficiency Familial hyperthyroidism due to mutations in TSH receptor Non-acquired pituitary hormone deficiency Intermediate DEND syndrome Short stature due to GHSR deficiency McCune-Albright syndrome Rare primary hyperaldosteronism Familial hypoaldosteronism 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 Combined pituitary hormone deficiencies, genetic forms Temple syndrome due to paternal 14q32.2 microdeletion Disease associated with non-acquired combined pituitary hormone deficiency Permanent congenital hypothyroidism 46,XY difference of sex development due to a defect in testosterone metabolism by peripheral tissue Rubinstein-Taybi syndrome due to 16p13.3 microdeletion Adrenomyodystrophy Autosomal recessive hypophosphatemic rickets Cataract-intellectual disability-hypogonadism syndrome Normosmic congenital hypogonadotropic hypogonadism Pendred syndrome Sporadic secreting paraganglioma Temple syndrome due to paternal 14q32.2 hypomethylation Central congenital hypothyroidism Rubinstein-Taybi syndrome due to EP300 haploinsufficiency MORM syndrome SHORT syndrome Multiple endocrine neoplasia type 2B Sporadic pheochromocytoma Rubinstein-Taybi syndrome due to CREBBP mutations Hypophosphatasia Temple syndrome due to maternal uniparental disomy of chromosome 14 Hypophosphatemic rickets Testicular regression syndrome DEND syndrome Addison disease Growth delay due to insulin-like growth factor type 1 deficiency Dominant hypophosphatemia with nephrolithiasis or osteoporosis Alpha-thalassemia-X-linked intellectual disability syndrome 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 Hypothyroidism due to deficient transcription factors involved in pituitary development or function Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations Congenital hypothyroidism 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 Obesity due to CEP19 deficiency 46,XX disorder of gonadal development MEHMO syndrome Craniopharyngioma