Chronic hydrocephalus: a treatable cause of primary amenorrhoea

Abstract

Miss SG presented to endocrine clinic in 2000, at 17.6 years of age, with primary amenorrhoea. She developed axillary and pubic hair at the age of 12, accompanied by some initial breast budding, however, breast development ceased approximately 1 year later. She was on no medications and was performing well at school. She denied extremes of exercise and had no history of significant weight change, hirsutes, acne, galactorrhoea or mass symptoms. Eighteen months prior to presentation, she had seen a gynaecologist who initially diagnosed physiological delayed menarche and prescribed the combined oral contraceptive pill (COCP). She menstruated while on the COCP, but on cessation, there was no further progression of puberty or spontaneous menses. She had a family history of delayed puberty, with two paternal aunts developing menarche at 16 years and also a brother who was slow to progress through puberty. On initial examination at the clinic, Miss SG had Tanner IV pubic hair and Tanner II breast development. She had a body mass index of 22.5 kg/m2 (height 1.65 m, weight 61.5 kg), consistent with her mid-parental height. There was minimal facial acne and no increase in body hair. Neurological examination was normal, including normal visual fields, fundi and an intact sense of smell. Investigation showed normal levels of thyroid stimulating hormone, thyroxine, prolactin (PRL) and testosterone. The gonadotrophin levels were prepubertal. Luteinising hormone (LH) was 0.1 IU/L (normal 0–15), and follicle-stimulating hormone (FSH) was 2.9 IU/L (normal 0–15). Estradiol (E2) levels were undetectable less than 150 pmol/L (normal 150–1000). The karyotype was 46,XX. Pelvic ultrasound revealed small prepubertal ovaries and uterus without significant endometrial development. The differential diagnosis was constitutional delay in puberty or idiopathic hypogonadotropic hypogonadism. A magnetic resonance imaging (MRI) scan of the pituitary was requested but was delayed 6 months while the woman was overseas. First line management was low-dose ethinylestradiol 5 mcg daily for 3 months, which progressed breast development to Tanner stage III. When estrogen therapy was discontinued in month 4, however, there was no further progression of puberty. E2 and gonadotrophin levels of treatment remained in the prepubertal range. An MRI (Figure 1) was performed 6 months after initial presentation and demonstrated the presence of ventriculomegaly with prominent dilatation of the lateral, third and fourth ventricles. There was no evidence of transependymal flow of cerebrospinal fluid. There was minimal distortion of the pituitary stalk and preservation of the posterior pituitary bright spot on T1 weighting. No specific lesion was identified in the pituitary gland or hypothalamus. A diagnosis of ‘arrested’, communicating hydrocephalus was made. On further review of Miss SG, she admitted to severe headaches two to four times a year. Measurement of her head circumference was in the 98th percentile compared with her mother’s, which was in the 50th percentile. The woman was reluctant to consider surgery initially and continued to receive exogenous estrogen to further induce puberty. However, third ventriculostomy was performed in March 2004. Postoperatively, without further exogenous estrogen, breast development continued and spontaneous menses commenced in June 2004. E2 and gonadotrophin levels after surgery were normal for a menstruating female. She continues to have a regular 30-day cycle, with normal FSH, LH and E2 levels. Her headaches have completely resolved.