The patient presented precocious puberty, which has not been previously reported in RTS and that was treated with a GnRH analog, and anal stenosis, which has only been reported once. This case highlights the need to consider deep intronic variants in patients with RTS when pathogenic variants in...
2). Currently patient is off treatment for leuprolide acetate and acetazolamide. Fig. 2 Well defined optic disc margins Full size image Discussion and conclusion Central precocious puberty (CPP) is amenable to management with GnRH analogues that operate on physiological principles by desensitizing the ...
Precocious puberty in a patient with mosaic Turner O Pirgon,G Sandal - 《Genetic Counseling》 被引量: 5发表: 2014年 PRECOCIOUS PUBERTY IN A PATIENT WITH MOSAIC TURNER SYNDROME Precocious puberty in a patient with mosaic Turner syndrome; Turner syndrome (TS) is one of the most common human ...
Precocious Puberty in a Patient with Indicanuria Robinow Syndrome with Growth Hormone Deficiency: Treatment with Growth Hormone Ectopic ACTH Syndrome due to Thymic Carcinoid Tumor in a Girl Pheochromocytoma and Clear-Cell Renal Carcinoma in a Child with von Hippel-Lindau Disease: A Patient Report...
Ovarian cysts have been reported previously in heterozygous females, but to our knowledge idiopathic precocious puberty is a new finding in this syndrome. Whether precocious puberty is a coincidental finding in this patient or a previously unreported manifestation of the fra (X) syndrome is not ...
mass but can be associated with paraneoplastic secretion of beta-gonadotropinleading it to present like peripheral precocious puberty.This case highlights a rare initial presentation of hepatoblastoma as precocious puberty in a two-year-old patient who presented with persistent abdomina...
Franceschini P, Vardeu MP, Guala A, Franceschini D, Testa A, Corrias A, Chiabotto P (1993) Lower lip pits and complete idiopathic precocious puberty in a patient with Kabuki make-up (Niikawa-Kuroki) syndrome. Am J Med Genet 47(3):423–425...
We aim to provide a method for the treatment of children with this rare form of precocious puberty. Case Presention: A 4-year-old girl presented with vaginal bleeding and enlarged breasts. The activating mutation of GNAS was not detected in the patient's peripheral blood samples, as some ...
To our knowledge, this is the first reported occurrence of an intracranial hamartoma located in a site other than the hypothalamus and causing precocious puberty. The possible mechanisms underlying the development of precocious puberty in this patient are discussed....
Precocious puberty due to a hypothalamic ha- martoma in a patient surviving to late middle age. J Neurol Neurosurg Psychiat 1963;26:275-280Wolman, L., Balmforth, G. V., Precocious puberty due to a hypothalamic hamartoma in a patient surviving to late middle age. J. Neurol. Neurosurg. ...