{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,28]],"date-time":"2026-02-28T20:55:14Z","timestamp":1772312114941,"version":"3.50.1"},"reference-count":24,"publisher":"Walter de Gruyter GmbH","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2017,1,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The association of anosmia and congenital hypogonadotropic hypogonadism (CHH) is well described; however, congenital arhinia is a malformation associated with CHH that occurs much more rarely. There have been three reports of male patients with hypogonadism and congenital arhinia in the literature to date. We present the first case of arhinia associated with CHH in a female patient. A 14 years and 8 months female with congenital arhinia presented with delayed puberty. Physical examination and laboratory evaluation were consistent with hypogonadotropic hypogonadism. She had no other hormone deficiencies and brain magnetic resonance imaging demonstrated a normal pituitary gland. Abdominal ultrasound showed a prepubertal uterus and ovaries. She was subsequently started on sex steroid treatment to induce secondary sexual characteristics. This case demonstrates that abnormalities of nasal development may provide an early diagnostic clue to hypogonadotropic hypogonadism, particularly in female patients who would not manifest classic signs of CHH in infancy (micropenis and cryptorchidism). Early diagnosis of CHH and timely initiation of sex steroid therapy is important to prevent comorbidities related to pubertal delay.<\/jats:p>","DOI":"10.1515\/jpem-2016-0082","type":"journal-article","created":{"date-parts":[[2016,12,11]],"date-time":"2016-12-11T10:01:25Z","timestamp":1481450485000},"source":"Crossref","is-referenced-by-count":7,"title":["Hypogonadotropic hypogonadism in a female patient with congenital arhinia"],"prefix":"10.1515","volume":"30","author":[{"given":"Janel Darcy","family":"Hunter","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melissa Ann","family":"Davis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jennifer Rachel","family":"Law","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","reference":[{"key":"ref71","doi-asserted-by":"crossref","first-page":"153","DOI":"10.4103\/0971-9261.44771","article-title":"Congenital arhinia: a rare case","volume":"13","year":"2008","journal-title":"J Indian Assoc Pediatr Surg"},{"key":"ref121","doi-asserted-by":"crossref","first-page":"115","DOI":"10.12659\/AJCR.890072","article-title":"Congenital arhinia: a rare case","volume":"15","year":"2014","journal-title":"Am J Case Rep"},{"key":"ref141","first-page":"355","article-title":"Congenital arhinia: case report of a rare congenital anomaly","volume":"14","year":"2011","journal-title":"Arch Iran Med"},{"key":"ref211","doi-asserted-by":"crossref","first-page":"3056","DOI":"10.1210\/jc.2012-1598","article-title":"Clinical review: Distinguishing constitutional delay of growth and puberty from isolated hypogonadotropic hypogonadism: critical appraisal of 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