Non-communicating hydrocephalus with a primary empty sella presenting with growth hormone deficiency and delayed puberty successfully treated by endoscopic third ventriculocisternostomy.

The authors present the unusual case of a 15-year-old boy with a primary empty sella caused by non-communicating hydrocephalus due to fourth ventricle outflow obstruction whose secondary symptoms of growth hormone deficiency and delayed puberty were successfully treated by endoscopic third ventriculocisternostomy (ETV). Hypopituitarism occurs only rarely in cases of hydrocephalus; rarer still are cases where hypopituitarism is the sole symptom of hydrocephalus. A primary empty sella may indicate elevated intracranial pressure; if the cause is non-communicating hydrocephalus, ETV is indicated as the preferred treatment modality.

Pure gonadal dysgenesis (Swyer syndrome) due to microdeletion in the SRY gene: a case report.

46,XY complete gonadal dysgenesis (Swyer syndrome) is a rare cause of disorder of sexual development. This syndrome is caused by a defect in the determination of sex during embryogenesis and is characterised with female external genitalia, normal or rudimentary uterus, and streak gonads, despite the presence of the 46,XY karyotype. Most of the studied cases presented with leak of secondary sex characteristics and primary amenorrhea during adolescence. Laboratory findings reveal hypergonadotropic hypogonadism. Herein we present the case of a female with a 46,XY karyotype who was admitted with delayed puberty and detected to have a microdeletion in the SRY gene and diagnosed to have Swyer syndrome. We highlight the importance of karyotype analysis in patients with delayed puberty and primary amenorrhea. Once the diagnosis of 46,XY complete gonadal dysgenesis is established, early laparoscopic removal of the dysgenetic gonads is crucial to prevent the development of gonadal malignancy.

Priapism in teenage boys following depot testosterone.

Priapism is rare in children and may result in erectile dysfunction and sexual aversion behaviours. Testosterone therapy is commonly regarded as safe in children and is widely used in constitutional delay of growth and puberty, hypogonadism, hypospadias and micropenis. We report two cases of priapism in teenage boys with constitutional delay of growth and puberty after a change in the formulation of depot testosterone. One case required surgical intervention and the other was preceded by stuttering priapism. These cases illustrate the importance of patient and/or parent counselling before testosterone administration and consideration of lower doses in at-risk patients.

Craniopharyngioma: presentation and endocrine sequelae in 36 children.

We studied the clinical presentation by age of 36 children with craniopharyngioma, and outcome by height and body mass index (BMI). Presenting symptoms included headache (51.4%), vomiting (31%), visual disturbances (22.9%), polyuria and/or polydipsia (17.1%), delayed puberty (19.4%), short stature (13.8%), and precocious puberty (2.7%). Growth deceleration was overlooked, as was diabetes insipidus (actual rate, 52% for both). Delayed puberty was observed in all patients of appropriate age. Mean height standard deviation score (SDS) at admission was significantly lower than mean target height SDS (p = 0.004), while mean final height SDS was similar (p = 0.14). BMI SDS at last follow-up was similar to mean parental BMI SDS. We conclude that although endocrinopathies are present in most patients with craniopharyngioma, they are rarely the reason for referral. While affected prepubertal children have non-endocrine complaints, most adolescents are referred because of delayed puberty. Diabetes insipidus may be more prevalent in craniopharyngioma than previously reported. When patients with hypothalamic obesity are excluded, mean BMI SDS remains within normal range and is influenced mostly by parental BMI SDS.

Arrested puberty associated with apoplectic prolactinoma in a male adolescent.

We report a case of "apoplectic pituitary adenoma" associated with puberty in an adolescent. The patient was unaware that he harbored a pituitary adenoma at the onset of his apoplectic episode. The adenoma was endocrinologically and histologically classified as a prolactinoma. Preoperative endocrine disturbances and subjective complaints improved immediately after surgery.