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-Syndrom Kleinwuchs-Hypophysen- und zerebelläre Defekte-kleine Sella turcica-Syndrom Hyposmie-nasale und okuläre Hypoplasie-hypogonadotroper Hypogonadismus-Syndrom Nebennierenhyperplasie, kongenitale, durch Cytochrom-P450-Oxydoreduktase-Mangel Hypophysenhormon-Mangel, kombinierter, nicht-erworbener Familiäre Nebennierenhypoplasie mit fehlendem hypophysären luteinisierenden Hormon Nebennierenhypoplasie, kongenitale, X-chromosomale Kallmann-Syndrom Athyreose Holoprosenzephalie, semilobäre Hypothyreose, kongenitale, durch transplazentare Passage von maternalen TSH-bindenden inhibitorischen Antikörpern Hypothyreose, kongenitale primäre, ohne Entwicklungsanomalie der Schilddrüse Holoprosenzephalie, alobäre Hypothyreose, kongenitale, idiopathische Holoprosenzephalie, lobäre X-chromosomale kongenitale zentrale Hypothyreose mit spät-beginnender testikulärer Vergrößerung Thyreoideastimulierendes Hormon-Mangel, isolierter Wachstumsverzögerung durch IGF-1-Resistenz Wachstumsverzögerung durch IGF-1 (insulin-like growth factor I)-Mangel Wachstumsstörung, hormonelle Thyrotropin-Releasing-Hormon (TRH)-Mangel, isolierter Septo-optische Dysplasie-Spektrum Störung des Hypophysenvorderlappens-variables Immundefekt-Syndrom Jodmangelsyndrom, fetales Wachstumshormonmangel, isolierter, nicht erworbener Laron-Syndrom Pubertät, periphere vorzeitige Autoimmun-Polyendokrinopathie Typ 1 Blepharophimose-Ptosis-Epicanthus inversus-Syndrom Hypothyreose, kongenitale transiente Woodhouse-Sakati-Syndrom Syndrom der Wachstumshormoninsensivität Vorzeitige männliche Pubertät, familiäre Form Seltene Form der vorzeitigen Pubertät Kongenitale Hypothyreose durch Entwicklungsanomalie Schilddrüsenektopie Schilddrüsen-Dyshormonogenese, familiäre Schilddrüsenhemiagenesie Schilddrüsenhypoplasie Gonadendysgenesie, 46, XX-Typ Hypothyreose, kongenitale primäre Hypothyreose, kongenitale permanente Hypothyreose, kongenitale zentrale Thyrotropin-Releasing-Hormon (TRH)-Resistenz Hypogonadotroper Hypogonadismus, kongenitaler