A Case with late onset of ambiguous genitalia
نویسندگان
چکیده
BACKGROUND Ambiguous genitalia is an uncommon situation that happens between 1 and 2 per every 1000 live births and falls under the umbrella diagnosis of disorders of sexual development. CASE In this article, we report a case of male pseudohermaphroditism with ambiguous genitalia. The proband was a 12 yr old girl without any uterus or ovarian tissues. Karyotype of the case is 46, XY. Genes involved in sexual differentiation such as AR, SRD5A2, LH, LHR, FSH, 17 B HSD and SRY genes were sequenced in both directions. No mutations were found in these genes either. CONCLUSION It seems advisable to be cautious in similar cases, and revise protocol for tracing the genes involved in the patients.
منابع مشابه
X-Linked Lissencephaly with Absent Corpus Callosum and Ambiguous Genitalia: A Case Report
Background: X-linked lissencephaly with ambiguous genitalia (XLAG) is a recently described genetic disorder, in which patients present with lissencephaly, agenesis of the corpus callosum, refractory epilepsy of neonatal onset, acquired microcephaly, and male genotype with ambiguous genitalia. XLAG is responsible for a severe neurological disorder of neonatal onset in boys. A gyration defect con...
متن کاملA Rare Occurrence of Ambiguous Genitalia in Meckel-Gruber Syndrome (MGS): A Case Report
Background: Meckel-Gruber Syndrome (MGS) is a rare autosomal recessive congenital syndrome with triad of encephalocele, polydactyly, and polycystic kidneys. The worldwide incidence of the MGS is 1 in 1.3-1 in 140,000 live births. The highest incidence of 1 per 1,300 live births (carrier rate of 1 in 18) was reported in Gujarati Indians. MGS is caused by mutation in the...
متن کاملSteroid Cell Tumor of Ovary Diagnosed After Delivery; Case Report
Introduction: Steroid cell tumors (SCTs) constitute less than 0.1% of all ovarian tumors. They are divided into 3 categories according to cell of origin: Stromal Luteoma arising from stromal cells of the ovary, Leydig cell tumor arising from Leydig cells, and SCT not otherwise specified (NOS) when the origin of the tumor is not defined. Case Presentation:...
متن کاملPrenatal diagnosis and postnatal findings of cloacal malformation: a case report
Introduction: Cloacal malformation is an extremely rare fetal pathological condition but an important anomaly that presents as a variety of defects. It predominantly affects females, with prevalence of 1 in 50,000 births. Prenatal ultrasonography usually showed oligohydramnios and the fetus having a large cystic mass in the lower abdomen with a single septum, bilateral hydronephrosis, ambig...
متن کاملبررسی 10 ساله تظاهرات بالینی و شیوع انواع هیپرپلازی مادرزادی آدرنال در انستیتو غدد درون‌ریز و متابولیسم
Background & Objective: Congenital Adrenal Hyperplasia(CAH) includes a group of inherited diseases which are caused by enzyme defects in the synthesis of cortisol from cholesterol. It manifests itself in different forms like ambiguous genitalia, adrenal crisis in infants, precocious puberty in children, hirsutism, oligomenorrhea and infertility in adults. Although CAH is one of the most com...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
دوره 15 شماره
صفحات -
تاریخ انتشار 2017