RESUMEN
Pemphigus vulgaris is autoimmune disease characterized by acantholysis and blister formation in the skin and mucosa. The introduction of corticosteroids has greatly reduced mortality, and a number of immunosuppressive agents, such as azathioprine and cyclophosphamide are recommended as adjuncts to oral steroids. A 38-year-old female patient of pemphigus vulgaris has been managed with daily oral cyclophosphamide as adjunct to prednisolone for about 11 months, and then transfered to our department due to amenorrhea for 4 months. Hormonal profile of FSH, LH and estradiol revealed in postmenopausal range and follow-up results of hormonal profile were not changed, and amenorrhea continues for total 13 months until now. So we report a case of premature ovarian failure complicated by long-term oral administration of cyclophosphamide.
Asunto(s)
Adulto , Femenino , Humanos , Acantólisis , Administración Oral , Corticoesteroides , Amenorrea , Enfermedades Autoinmunes , Azatioprina , Vesícula , Ciclofosfamida , Estradiol , Estudios de Seguimiento , Inmunosupresores , Mortalidad , Membrana Mucosa , Pénfigo , Prednisolona , Insuficiencia Ovárica Primaria , Piel , EsteroidesRESUMEN
Holoprosencephaly(HPE), a common developmental defect affecting the forebrain and cranioface, is etiologically heterogenous. Teratogen, chromosomal anomalies, genetic syndrome, or genetic disorder of non-syndromic HPE are usually accepted as etiology. But the severity of brain and craniofacial malformation are not associated with etiology. Individuals with microform of HPE, who usually have normal cognition and brain imaging, are at the risk of having children with HPE. Several studies on the basis of HPE gene have been performed, which shed valuable insight on normal brain development. As additional HPE genes are identified, more accurate recurrent risk counseling can be given. We experienced a case of recurrent HPE diagnosed by transabdominal ultrasound examinations at 22 weeks' gestation.