SE-ATLAS

46,XY difference of sex development due to a cholesterol synthesis defect 46,XX difference of sex development induced by exogenous maternal-derived androgen Müllerian aplasia and hyperandrogenism Denys-Drash syndrome 46,XY difference of sex development due to a testosterone synthesis defect 46,XY difference of sex development due to adrenal and testicular steroidogenesis defect Von Willebrand disease 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 Von Willebrand disease type 2 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency Aromatase deficiency Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency Syndrome with 46,XX difference of sex development Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency 46,XX ovotesticular difference of sex development Von Willebrand disease type 1 46,XY disorder of gonadal development Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency Zollinger-Ellison syndrome Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency Partial androgen insensitivity syndrome Meacham syndrome 46,XY difference of sex development due to isolated 17,20-lyase deficiency Von Hippel-Lindau disease Classic congenital lipoid adrenal hyperplasia due to STAR deficency Rare disease with adrenal Cushing syndrome as a major feature Dysmorphism-short stature-deafness-difference of sex development syndrome Duodenal neuroendocrine tumor Neuroendocrine tumor of stomach Ileal neuroendocrine tumor Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form Jejunal neuroendocrine tumor 46,XY difference of sex development induced by maternal exposure to endocrine disruptors Neuroendocrine tumor of the colon Generalized glucocorticoid resistance syndrome Neuroendocrine neoplasm of appendix 46,XY complete gonadal dysgenesis Von Willebrand disease type 3 Multiple endocrine neoplasia type 1 48,XXXY syndrome 46,XX gonadal dysgenesis Neuroendocrine tumor of anal canal Multiple endocrine neoplasia type 2 Neuroendocrine tumor of the rectum Oncogenic osteomalacia Leydig cell hypoplasia due to complete LH resistance Testicular agenesis 46,XX difference of sex development-anorectal anomalies syndrome 49,XXXXY syndrome 46,XX difference of sex development-skeletal anomalies syndrome Leydig cell hypoplasia due to partial LH resistance Sex chromosome difference of sex development Primary immunodeficiency Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form Pituitary adenoma 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency Familial hyperaldosteronism Carcinoid syndrome Gastroenteropancreatic neuroendocrine neoplasm 46,XX difference of sex development Turner syndrome due to structural X chromosome anomalies Difference of sex development-intellectual disability syndrome Severe hemophilia B 46,XX testicular difference of sex development 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome Moderate hemophilia B Perrault syndrome Persistent Müllerian duct syndrome Primary pigmented nodular adrenocortical disease Hemophilia A Mild hemophilia B Moderate hemophilia A Familial hypocalciuric hypercalcemia Rare hyperthyroidism XY type gonadal dysgenesis-associated anomalies syndrome Hemophilia B Severe hemophilia A Rare hypothyroidism 45,X/46,XY mixed gonadal dysgenesis Smith-Lemli-Opitz syndrome Complete androgen insensitivity syndrome Mild hemophilia A Hypocalcemic vitamin D-dependent rickets Campomelic dysplasia Hypocalcemic vitamin D-resistant rickets Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome Distal deletion 9p Rare hypoparathyroidism 46,XY partial gonadal dysgenesis Cushing syndrome Neuroendocrine tumor of pancreas Neonatal severe primary hyperparathyroidism Acromegaly Adrenogenital syndrome ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor 48,XXYY syndrome Hyperandrogenism due to cortisone reductase deficiency 46,XX difference of sex development induced by androgens excess Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome Familial hyperthyroidism due to mutations in TSH receptor Autosomal dominant hypocalcemia 46,XY difference of sex development Multiple endocrine neoplasia type 2B Syndrome with 46,XY difference of sex development Multiple endocrine neoplasia type 4 Sudden infant death-dysgenesis of the testes syndrome Multiple endocrine neoplasia Multiple endocrine neoplasia type 2A 46,XY difference of sex development due to a defect in testosterone metabolism by peripheral tissue Leydig cell hypoplasia due to LHB deficiency Acquired pituitary hormone deficiency Testicular regression syndrome Acquired immunodeficiency Alpha-thalassemia-X-linked intellectual disability syndrome Aldosterone-producing adenoma Glanzmann thrombasthenia Glucagonoma Congenital hypothyroidism VIPoma 46,XX difference of sex development induced by maternal-derived androgen Acute adrenal insufficiency 46,XX difference of sex development induced by fetoplacental androgens excess PAGOD syndrome Addison disease Congenital adrenal hyperplasia 46,XX disorder of gonadal development Hemophilia Insulinoma X-linked lissencephaly with abnormal genitalia Tetragametic chimerism Cushing syndrome due to bilateral macronodular adrenocortical disease Rare genetic thyroid disease Penile agenesis Cushing syndrome due to ectopic ACTH secretion Endogenous Cushing syndrome Adrenal Cushing syndrome Cushing disease ACTH-dependent Cushing syndrome 46,XY difference of sex development of endocrine origin ACTH-independent Cushing syndrome 46,XY ovotesticular difference of sex development Chondrodysplasia-difference of sex development syndrome Goblet cell carcinoma 46,XY difference of sex development due to impaired androgen production Turner syndrome 46,XX difference of sex development induced by endogenous maternal-derived androgen Kallmann syndrome Difference of sex development 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency Mosaic monosomy X Monosomy X 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency Pseudohypoparathyroidism Androgen insensitivity syndrome SERKAL syndrome Pituitary deficiency Leydig cell hypoplasia Bleeding disorder in hemophilia B carriers 46,XX difference of sex development induced by fetal androgens excess Frasier syndrome Bleeding disorder in hemophilia A carriers WAGR syndrome Chronic primary adrenal insufficiency