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 Congenital isolated ACTH deficiency Classic galactosemia Septopreoptic holoprosencephaly Combined pituitary hormone deficiencies, genetic forms Pituitary stalk interruption syndrome CHARGE syndrome Congenital hypothyroidism due to maternal intake of antithyroid drugs Johanson-Blizzard syndrome Genetic transient congenital hypothyroidism Short stature due to primary acid-labile subunit deficiency Ataxia-hypogonadism-choroidal dystrophy syndrome Pallister-Hall syndrome Congenital adrenal hyperplasia Obesity due to leptin receptor gene deficiency Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis Isolated follicle stimulating hormone deficiency Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency Congenital lipoid adrenal hyperplasia due to STAR deficency Perrault syndrome 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 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome Muscular pseudohypertrophy-hypothyroidism syndrome Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form Normosmic congenital hypogonadotropic hypogonadism Hypothyroidism due to TSH receptor mutations Laron syndrome with immunodeficiency McCune-Albright syndrome Short stature due to partial GHR deficiency Short stature-delayed bone age due to thyroid hormone metabolism deficiency Congenital hypothyroidism Allan-Herndon-Dudley syndrome Short stature due to GHSR deficiency Pendred syndrome Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome Short stature-pituitary and cerebellar defects-small sella turcica syndrome Craniopharyngioma Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 Obesity due to congenital leptin deficiency Non-acquired panhypopituitarism Autoimmune polyendocrinopathy type 2 Isolated congenital hypogonadotropic hypogonadism Laurence-Moon 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 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome Aromatase deficiency Kallmann syndrome Athyreosis Semilobar holoprosencephaly Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies Primary congenital hypothyroidism without thyroid developmental anomaly Neonatal iodine exposure Alobar holoprosencephaly Idiopathic congenital hypothyroidism Lobar holoprosencephaly Pituitary resistance to thyroid hormone Transient congenital hypothyroidism due to neonatal factor Prader-Willi syndrome due to paternal 15q11q13 deletion Obesity due to prohormone convertase I deficiency Transient congenital hypothyroidism due to maternal factor Cataract-intellectual disability-hypogonadism syndrome Bardet-Biedl syndrome Prader-Willi syndrome due to translocation Prader-Willi-Syndrom durch paternale Deletion von 15q11.13, Typ 2 Hypothyreose, kongenitale primäre Jodmangelsyndrom, fetales Kleinwuchs durch isolierten Wachstumshormonmangel mit X-chromosomaler Hypogammaglobulinämie Laron-Syndrom Autoimmun-Polyendokrinopathie Typ 1 Hypothyreose, kongenitale transiente Prader-Willi-Syndrom durch paternale Deletion von 15q11.13, Typ 1 Hirn-Lunge-Schilddrüsen-Syndrom Gonadendysgenesie, 46, XX-Typ Kleinwuchs durch qualitative Wachstumshormonanomalien Hypothyreose, kongenitale permanente Hypothyreose, kongenitale zentrale Hypogonadotroper Hypogonadismus, kongenitaler Blepharophimose-Ptosis-Epicanthus inversus-Syndrom Wachstumshormonmangel, isolierter, Typ III 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 Wachstumshormonmangel, isolierter, nicht erworbener Pubertät, periphere vorzeitige Woodhouse-Sakati-Syndrom Syndrom der Wachstumshormoninsensivität Vorzeitige männliche Pubertät, familiäre Form Seltene Form der vorzeitigen Pubertät Schilddrüsen-Dysgenesie Schilddrüsenektopie X-chromosomale Intelligenzminderung mit isoliertem Wachstumshormonmangel Schilddrüsen-Dyshormonogenese, familiäre Schilddrüsenhemiagenesie Schilddrüsenhypoplasie Wachstumshormonmangel, isolierter, Typ IA Wachstumshormonmangel, isolierter, Typ IB Thyrotropin-Releasing-Hormon (TRH)-Resistenz Wachstumshormonmangel, isolierter, Typ II