SE-ATLAS

Turner syndrome Prader-Willi syndrome Hypothyroidism due to deficient transcription factors involved in pituitary development or function Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome Non-acquired pituitary hormone deficiency Combined pituitary hormone deficiencies, genetic forms Pituitary stalk interruption syndrome Congenital hypothyroidism due to maternal intake of antithyroid drugs Johanson-Blizzard syndrome Genetic transient congenital hypothyroidism Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome Muscular pseudohypertrophy-hypothyroidism syndrome Hypothyroidism due to TSH receptor mutations Laron syndrome with immunodeficiency McCune-Albright syndrome Allan-Herndon-Dudley syndrome Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome Non-acquired panhypopituitarism Autoimmune polyendocrinopathy type 2 Isolated congenital hypogonadotropic hypogonadism Laurence-Moon syndrome Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome Aromatase deficiency Neonatal iodine exposure Pituitary resistance to thyroid hormone Transient congenital hypothyroidism due to neonatal factor Transient congenital hypothyroidism due to maternal factor Cataract-intellectual disability-hypogonadism syndrome Bardet-Biedl syndrome Congenital isolated ACTH deficiency Classic galactosemia Septopreoptic holoprosencephaly CHARGE syndrome Short stature due to primary acid-labile subunit deficiency Ataxia-hypogonadism-choroidal dystrophy syndrome Pallister-Hall syndrome Congenital adrenal hyperplasia Isolated follicle stimulating hormone deficiency Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency Congenital lipoid adrenal hyperplasia due to STAR deficency Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency Aromatase excess syndrome Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency Normosmic congenital hypogonadotropic hypogonadism Short stature due to partial GHR deficiency Short stature-delayed bone age due to thyroid hormone metabolism deficiency Congenital hypothyroidism Short stature due to GHSR deficiency Pendred syndrome Short stature-pituitary and cerebellar defects-small sella turcica syndrome Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency Non-acquired combined pituitary hormone deficiency Familial adrenal hypoplasia with absent pituitary luteinizing hormone X-linked adrenal hypoplasia congenita Kallmann syndrome Athyreosis Semilobar holoprosencephaly Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies Primary congenital hypothyroidism without thyroid developmental anomaly Alobar holoprosencephaly Idiopathic congenital hypothyroidism Lobar holoprosencephaly X-linked central congenital hypothyroidism with late-onset testicular enlargement Isolated thyroid-stimulating hormone deficiency Growth delay due to insulin-like growth factor I resistance Growth delay due to insulin-like growth factor type 1 deficiency Rare endocrine growth disease Isolated thyrotropin-releasing hormone deficiency Septo-optic dysplasia spectrum Deficiency in anterior pituitary function-variable immunodeficiency syndrome Fetal iodine syndrome Non-acquired isolated growth hormone deficiency Laron syndrome Rare peripheral precocious puberty Polyendocrinopathie auto-immune type 1 Syndrome de blépharophimosis-ptosis-épicanthus inversus Hypothyroïdie congénitale transitoire Syndrome de Woodhouse-Sakati Syndrome d'insensibilité à l'hormone de croissance Puberté périphérique précoce familiale limitée aux garçons Puberté précoce rare Hypothyroïdie congénitale par anomalie de développement de la thyroïde Ectopie thyroïdienne Hypothyroïdie familiale par anomalie de l'hormonosynthèse thyroïdienne Hémiagénésie de la thyroïde Hypoplasie de la thyroïde Dysgénésie gonadique 46,XX Hypothyroïdie congénitale primitive Hypothyroïdie congénitale permanente Hypothyroïdie congénitale centrale Syndrome de résistance à la thyréolibérine Hypogonadisme hypogonadotrope congénital