... calcification, leukodystrophy, parenchymal brain cysts, bicuspid aortic valve, and primary ovarian failure. She carries a previously reported maternally inherited pathogenic variant in exon 5 (c.724_727del, p.(Lys242Leufs*41)) and a novel, paternally inherited splice site variant (c.1617+5G>T; p.(Lys480Asnfs...

.... Estrogen deficiency Hormone replacement therapy, transdermal Ovarian failure Turner syndrome Growth The overall goal of estrogen replacement therapy (ERT) in girls with hypogonadism is to establish an age-appropriate endocrine milieu resulting in normal growth, bone mass accrual, uterine growth...

... Ovarian failure Hyperprolactinaemia Pituitary tumour Gonadotrophin regulation Abstract. A programme for investigation o f secondary amenorrhoea is described, which is based upon a functional classification o f the endocrine causes o f anovulation. All diagnos­ tic enquiries not directly yielding...

... with susceptibility to ovarian failure secondary amenorrhea necessitates thorough diagnostic investigation. 2 11 1999 Ullrich-Turner syndrome (45X0/46XX mosaic) was diagnosed in a girl with short stature at the age of 12 years. She was not treated with growth hormone. Serum basal and stimulated...

... hormone (<0.2→7.2 mIU/ml) and follicle-stimulating hormone (7.1→44.8 mIU/ml), and a human menopause gonadotropin test yielded no estradiol response (13→11 pg/ml). The results suggest that primary ovarian failure in type I BPES can take place in early childhood. Serum E 2 was detected in our patient...