{"orpha":2232,"name":"Primary hypergonadotropic hypogonadism-partial alopecia syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Al Awadi-Farag-Teebi syndrome"],"definition":"A rare endocrine disorder characterized by primary hypogonadism and partial alopecia. Females present with Müllerian hypoplasia, absent or streak ovaries, hypoplastic internal genitalia, primary amenorrhea, and sparse or absent axillary and pubic hair. Some patients also presented sparse eyebrows, microcephaly, flat occiput, dorsal kyphosis or mild intellectual disability. The only described male presents with germinal cell aplasia. Affected individual all present partial scalp alopecia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2232/","orphanet_url":"https://www.orpha.net/en/disease/detail/2232","names":{"fr":{"name":"Syndrome d'hypogonadisme hypergonadotrope primaire-alopécie partielle","synonyms":["Syndrome d'Al Awadi-Farag-Teebi"],"definition":"Ce syndrome est caractérisé par un hypogonadisme hypergonadotrope primaire et une alopécie partielle."},"de":{"name":"Primärer hypergonadotroper Hypogonadismus-partielle Alopezie-Syndrom","definition":"Eine seltene endokrine Störung, die durch primären Hypogonadismus und partielle Alopezie gekennzeichnet ist. Bei Frauen treten eine Müllersche Hypoplasie, fehlende oder streifenförmige Ovarien, hypoplastische innere Genitalien, primäre Amenorrhoe und spärliche oder fehlende Achsel- und Schambehaarung auf. Einige Patienten wiesen auch spärliche Augenbrauen, Mikrozephalie, flaches Hinterhauptbein, dorsale Kyphose oder leichte Intelligenzminderung auf. Der einzige beschriebene Mann leidet an Keimzellaplasie. Alle betroffenen Personen weisen eine partielle Alopezie der Kopfhaut auf."},"es":{"name":"Síndrome de hipogonadismo hipergonadotrópico primario-alopecia parcial","synonyms":["Síndrome de Al Awadi-Farag-Teebi"],"definition":"Es un trastorno endocrino poco común caracterizado por hipogonadismo primario y alopecia parcial. Las mujeres presentan hipoplasia mûlleriana, ovarios ausentes o estriados, genitales internos hipoplásicos, amenorrea primaria y vello púbico y axilar escaso o ausente. Algunos pacientes también presentaban cejas escasas, microcefalia, occipucio plano, cifosis dorsal o discapacidad intelectual leve. El único varón descrito presenta aplasia de células germinales. Todos los pacientes presentan alopecia parcial del cuero cabelludo."},"it":{"name":"Ipogonadismo primitivo - alopecia parziale","synonyms":["Sindrome di Al Awadi-Farag-Teebi"]},"nl":{"name":"Primair hypergonadotroop hypogonadisme - partiële alopecie-syndroom","synonyms":["Syndroom van Al Awadi-Farag-Teebi"],"definition":"Een zeldzame endocriene aandoening, gekenmerkt door primair hypogonadisme en partiële alopecie. Vrouwen presenteren zich met Mülleriaanse hypoplasie, afwezige of 'streak'-ovaria (bindweefselstrengen zonder geslachtsklierweefsel), hypoplastische inwendige geslachtsorganen, primaire amenorroe, en schaars of afwezig oksel- en schaamhaar. Sommige patiënten presenteren zich ook met schaarse wenkbrauwen, microcefalie, plat achterhoofd, dorsale kyfose of milde intellectuele achterstand. De enige mannelijke patiënt die werd beschreven, vertoont aplasie van kiemcellen. Alle getroffen individuen vertonen gedeeltelijke alopecie van scalp."},"pt":{"name":"Síndrome de hipogonadismo hipergonadotrópico primário-alopecia parcial","synonyms":["Síndrome Al Awadi-Farag-Teebi"],"definition":"Uma doença endócrina rara caracterizada por hipogonadismo primário e alopécia parcial. Indivíduos do sexo feminino apresentam hipoplasia mülleriana, ovários ausentes ou estriados, genitais internos hipoplásicos, amenorreia primária e pelos axilares e púbicos esparsos ou ausentes. Alguns doentes apresentavam também sobrancelhas esparsas, microcefalia, occipital plano, cifose dorsal ou perturbação do desenvolvimento intelectual ligeira. O único homem descrito apresenta aplasia de células germinativas. Todos os indivíduos afetados apresentam alopécia parcial do couro cabeludo."},"pl":{"name":"Pierwotny hipogonadyzm hipergonadotropowy - łysienie ciemieniowe","synonyms":["Zespół Al Awadi, Farag i Teebi"]},"cs":{"name":"Syndrom zahrnující primární hypergonadotropní hypogonadismus a částečnou alopecii","synonyms":["Al Awadiové-Faragův-Teebiho syndrom","Al Awadi-Farag-Teebiho syndrom"]},"uk":{"name":"Синдром первинного гіпергонадотропного гіпогонадизму - часткової алопеції","synonyms":["Синдром Аль-Аваді-Фараг-Тібі"],"definition":"A rare endocrine disorder characterized by primary hypogonadism and partial alopecia. Females present with Mûllerian hypoplasia, absent or streak ovaries, hypoplastic internal genitalia, primary amenorrhea, and sparse or absent axillary and pubic hair. Some patients also presented sparse eyebrows, microcephaly, flat occiput, dorsal kyphosis or mild intellectual disability. The only described male presents with germinal cell aplasia. Affected individual all present partical scalp alopecia."},"zh":{"name":"原发性高促性腺激素性性腺功能减退-局部脱发综合征","synonyms":["Al Awadi-Farag-Teebi 综合征"]},"tr":{"name":"Primer hipergonadotropik hipogonadizm-kısmi alopesi sendromu","synonyms":["Al Awadi-Farag-Teebi sendromu"]}},"xrefs":[{"source":"OMIM","code":"241090","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E28.3","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"E29.1","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"GA30.6","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009420","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536949","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931374","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":181441,"name":"Rare disorder with hypergonadotropic hypogonadism","classifications":[156,193,201]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"19213036[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_19213036[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-11-28","source":"19213036[PMID]_12749067[PMID]_4061495[PMID]","terms":[{"hpo":"HP:0002293","label":"Alopecia of scalp","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000815","label":"Hypergonadotropic hypogonadism","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0008193","label":"Primary gonadal insufficiency","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000534","label":"Abnormal eyebrow morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008187","label":"Absence of secondary sex characteristics","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008633","label":"Agonadism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010463","label":"Aplasia of the ovary","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008684","label":"Aplasia/hypoplasia of the uterus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003187","label":"Breast hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008214","label":"Decreased serum estradiol","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040171","label":"Decreased serum testosterone concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005469","label":"Flat occiput","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000802","label":"Impotence","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000837","label":"Increased circulating gonadotropin level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000789","label":"Infertility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003799","label":"Marked delay in bone age","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011961","label":"Non-obstructive azoospermia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000786","label":"Primary amenorrhea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007464","label":"Sparse facial hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010464","label":"Streak ovary","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002938","label":"Lumbar hyperlordosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002652","label":"Skeletal dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0045075","label":"Sparse eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002225","label":"Sparse pubic hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009185","label":"Contracture of the proximal interphalangeal joint of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006184","label":"Decreased palmar creases","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010487","label":"Small hypothenar eminence","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012506","label":"Small pituitary gland","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003393","label":"Thenar muscle atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001199","label":"Triphalangeal thumb","frequency":"Occasional (29-5%)","criteria":null}]}}