title: 46,XY hypergonadotropic hypogonadism and myasthenia gravis.
abstract: Both hypergonadotropic hypogonadism and myasthenia gravis can be parts of type II autoimmune polyendocrine syndrome and association between the two disorders has been reported in few cases. A 14 year old male patient with a personal history of bilateral cryptorchidism and ptosis was referred for delayed puberty. Clinical examination revealed eunuchoid habitus, small, soft testes, gynecomastia, ptosis, a myasthenic deficit score of 22.5 points and an IQ of 84 points. Decreased testosterone (0.064 ng/mL) and elevated LH (64.5 mUI/mL) were consistent with hypergonadotropic hypogonadism and karyotype was normal: 46,XY. Thyroid function, haematologic evaluation, BUN, electrolytes, and glycemia were in the normal range. Therapy consisted of anticholinesterase inhibitors, immunosuppressants, corticotherapy, testosterone; thoracoscopic thymectomy was performed showing thymic lymphoid hyperplasia on histopathologic examination. Myasthenic score improved (12.5 points), progressive virilization occurred, and a year later the patient presented with cushingoid features and obesity.
authors.affiliation: Department of Endocrinology, University of Medicine and Pharmacy of Craiova, Romania. corinalich@gmail.com
authors.forename: Corina
authors.initials: C
authors.lastname: Lichiardopol
authors.forename: V
authors.initials: V
authors.lastname: Herlea
authors.forename: Virginia
authors.initials: V
authors.lastname: Ioan
authors.forename: V
authors.initials: V
authors.lastname: Tomulescu
authors.forename: F
authors.initials: F
authors.lastname: Mixich
mesh_terms: D000293:Adolescent; D003456:Cryptorchidism / Q000150:complications / Q000175:diagnosis; D006801:Humans; D007006:Hypogonadism / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D008297:Male; D009157:Myasthenia Gravis / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D011628:Puberty, Delayed