SE-ATLAS

Syndrome de Turner Syndrome de Prader-Willi Hypothyroïdie par déficit en facteurs de transcription impliqués dans le développement ou la fonction hypophysaire Syndrome de Moebius-neuropathie axonale-hypogonadisme hypogonadotrope Insuffisance hypophysaire non acquise Déficit congénital isolé en ACTH Galactosémie classique Holoprosencéphalie septo-préoptique Déficits hypohysaires multiples de cause génétique identifée Rupture de la tige pituitaire Syndrome CHARGE Hypothyroïdie congénitale due à une exposition maternelle aux médicaments antithyroïdiens Syndrome de Johanson-Blizzard Hypothyroïdie congénitale transitoire génétique Petite taille par déficit primaire en sous-unité acide labile Syndrome d'ataxie-hypogonadisme-dystrophie choroïdienne Syndrome de Pallister-Hall Hyperplasie congénitale des surrénales Obésité par déficit en récepteur de la leptine Syndrome d'Antley-Bixler avec anomalie génitale et trouble de la stéroïdogenèse Déficit isolé en hormone folliculo-stimulante Hyperplasie congénitale des surrénales par déficit en 3-bêta-hydroxystéroïde déshydrogénase Hyperplasie congénitale lipoïde des surrénales par déficit en STAR Syndrome de Perrault Hyperplasie congénitale des surrénales par déficit en 17-alpha-hydroxylase 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 syndrome due to paternal deletion of 15q11q13 type 2 Primary congenital hypothyroidism Fetal iodine syndrome Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia Laron syndrome Autoimmune polyendocrinopathy type 1 Transient congenital hypothyroidism Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 Brain-lung-thyroid syndrome 46,XX gonadal dysgenesis Short stature due to growth hormone qualitative anomaly Permanent congenital hypothyroidism Central congenital hypothyroidism Congenital hypogonadotropic hypogonadism Blepharophimosis-ptosis-epicanthus inversus syndrome Isolated growth hormone deficiency type III 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 Non-acquired isolated growth hormone deficiency Rare peripheral precocious puberty Woodhouse-Sakati syndrome Growth hormone insensitivity syndrome Familial peripheral male-limited precocious puberty Rare precocious puberty Congenital hypothyroidism due to developmental anomaly Thyroid ectopia X-linked intellectual disability with isolated growth hormone deficiency Familial thyroid dyshormonogenesis Thyroid hemiagenesis Thyroid hypoplasia Isolated growth hormone deficiency type IA Isolated growth hormone deficiency type IB Resistance to thyrotropin-releasing hormone syndrome Isolated growth hormone deficiency type II