ESPE2015 Poster Category 3 DSD (31 abstracts)
Patient with Primary Amenorrhea and Glomerular Nephropathy
Sara Santini a , Franziska Phan-Hug a , Cheng Xu a , Faiza Lamine b , Nicolas Moser c , Anna Surbone c , Patrice Mathevet c , Benoit Lhermitte d , Chahin Achtari c & Nelly Pitteloud a
aEndocrinology, Diabetology & Metabolism, Department of Internal Medicine, University Hospital (CHUV), Lausanne, Switzerland; bNephrology, Department of Internal Medicine, University Hospital (CHUV), Lausanne, Switzerland; cDepartment of Gynecology & Obstetrics, University Hospital (CHUV), Lausanne, Switzerland; dInstitut of Pathology, University Hospital (CHUV), Lausanne, Switzerland
Background: Primary amenorrhoea is a rare condition characterised by absent menarche. Based on gonadotropin levels, we distinguish hyper from hypogonadotropic hypogonadism forms.
Objective and hypotheses: Herein, we present a case of primary amenorrhea with hypergonadotropic hypogonadism and glomerulopathy.
Method: A 27-year-old female presented for evaluation of primary amenorrhea and incomplete pubertal development. Her past medical history was positive for glomerulopathy during adolescence resulting in end-stage renal failure and hemodialysis 8 years ago. Family history was unremarkable. At examination, she was phenotypically female, no acne, no hirsutism, normal weight, height 173 cm for an arm span 179 cm, breast development Tanner 3, pubic hair Tanner 4, female external genitalia with clitoromegaly. Reproductive profile showed elevated LH (151.8 UI/l) and FSH levels (179.4 UI/l), low oestradiol levels (0.07 nmol/l) and serum testosterone (T) at 2 nmol/l. Karyotype was 46,XY with no SRY mutations. Pelvic ultrasound and MRI showed a small uterus and normal vagina, consistent with absent AMH levels yet the gonads were not identified. Laparoscopy identified two gonads of 1.5×1 cm with fallopian tubes. Gonads were removed given the high risk of malignancy with the presence of a dysgerminoma arising in a gonadoblastoma in the left gonad. Clusters of Leydig cells hyperplasia were present in both gonads producing some testosterone as indicated by serum T decreasing from 2 to 0.5 nmol/l after the gonadectomy. The patient was started on oestrogen replacement therapy.
Results: This 46,XY DSD patient presented with a female appearance, female internal reproductive tract, with gonadal dysgenesis associated with gonadoblastoma and dysgerminoma. The association of DSD with progressive glomerulopathy is reported in Frasier syndrome (FS), caused by mutations in Wilm’s tumour gene (WT1). The genetic analysis of WT1 is underway.
Conclusion: This case points to the high risk of gonadoblastoma in FS and the need for precocious screening of proteinuria in case of 46,XY DSD in order to improve clinical prognosis of these patients.
Article tools
My recent searches
My recently viewed abstracts
Authors
ESPE Abstracts
© Bioscientifica 2024 |
Privacy policy |
Cookie settings
BiosciAbstracts
Bioscientifica Abstracts is the gateway to a series of products that provide a permanent, citable record of abstracts for biomedical and life science conferences.
Find out more