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[Primary amenorrhoea and macrocephaly]. 2014

Mark R Garrelfs, and W Peter Vandertop, and Hanneke M van Santen
Emma Kinderziekenhuis AMC, afd. Kinderendocrinologie, Amsterdam.

BACKGROUND Primary amenorrhoea has a broad differential diagnosis. When hypogonadotropic hypogonadism is present, possible intracranial abnormalities should always be suspected. METHODS We present the case of a 16-year-old girl with primary amenorrhoea. Laboratory investigations showed hypogonadotropic hypogonadism. MRI of the brain revealed a secondary hydrocephalus, caused by a retrocerebellar arachnoid cyst. The increased pressure from the third ventricle on the hypothalamus caused a functional gonadotropin-releasing hormone (GnRH) deficiency, leading to primary amenorrhoea. Menarche occurred after neurosurgical intervention and the patient developed a regular cycle. In hindsight, the hydrocephalus could have been discovered earlier, because of the development of macrocephaly during the first years of life. CONCLUSIONS This case illustrates the importance of head circumference measurements, even after the first year of life, and the importance of further investigation if an abnormal growth pattern is revealed. Imaging investigations of the brain should always be carried out in cases of primary amenorrhoea accompanied by low gonadotropin levels (central hypogonadism).

UI MeSH Term Description Entries
D007006 Hypogonadism Condition resulting from deficient gonadal functions, such as GAMETOGENESIS and the production of GONADAL STEROID HORMONES. It is characterized by delay in GROWTH, germ cell maturation, and development of secondary sex characteristics. Hypogonadism can be due to a deficiency of GONADOTROPINS (hypogonadotropic hypogonadism) or due to primary gonadal failure (hypergonadotropic hypogonadism). Hypergonadotropic Hypogonadism,Hypogonadism, Isolated Hypogonadotropic,Hypogonadotropic Hypogonadism,Hypogonadism, Hypergonadotropic,Hypogonadism, Hypogonadotropic
D007987 Gonadotropin-Releasing Hormone A decapeptide that stimulates the synthesis and secretion of both pituitary gonadotropins, LUTEINIZING HORMONE and FOLLICLE STIMULATING HORMONE. GnRH is produced by neurons in the septum PREOPTIC AREA of the HYPOTHALAMUS and released into the pituitary portal blood, leading to stimulation of GONADOTROPHS in the ANTERIOR PITUITARY GLAND. FSH-Releasing Hormone,GnRH,Gonadoliberin,Gonadorelin,LH-FSH Releasing Hormone,LHRH,Luliberin,Luteinizing Hormone-Releasing Hormone,Cystorelin,Dirigestran,Factrel,Gn-RH,Gonadorelin Acetate,Gonadorelin Hydrochloride,Kryptocur,LFRH,LH-RH,LH-Releasing Hormone,LHFSH Releasing Hormone,LHFSHRH,FSH Releasing Hormone,Gonadotropin Releasing Hormone,LH FSH Releasing Hormone,LH Releasing Hormone,Luteinizing Hormone Releasing Hormone,Releasing Hormone, LHFSH
D003937 Diagnosis, Differential Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures. Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D006849 Hydrocephalus Excessive accumulation of cerebrospinal fluid within the cranium which may be associated with dilation of cerebral ventricles, INTRACRANIAL HYPERTENSION; HEADACHE; lethargy; URINARY INCONTINENCE; and ATAXIA. Communicating Hydrocephalus,Congenital Hydrocephalus,Obstructive Hydrocephalus,Post-Traumatic Hydrocephalus,Aqueductal Stenosis,Cerebral Ventriculomegaly,Fetal Cerebral Ventriculomegaly,Hydrocephalus Ex-Vacuo,Hydrocephaly,Aqueductal Stenoses,Cerebral Ventriculomegalies,Cerebral Ventriculomegalies, Fetal,Cerebral Ventriculomegaly, Fetal,Fetal Cerebral Ventriculomegalies,Hydrocephalus Ex Vacuo,Hydrocephalus Ex-Vacuos,Hydrocephalus, Communicating,Hydrocephalus, Congenital,Hydrocephalus, Obstructive,Hydrocephalus, Post-Traumatic,Post Traumatic Hydrocephalus,Stenoses, Aqueductal,Stenosis, Aqueductal,Ventriculomegalies, Cerebral,Ventriculomegalies, Fetal Cerebral,Ventriculomegaly, Cerebral,Ventriculomegaly, Fetal Cerebral
D000293 Adolescent A person 13 to 18 years of age. Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths
D000568 Amenorrhea Absence of menstruation. Postpartum Amenorrhea,Amenorrhea, Postpartum,Postpartum Amenorrheas
D016080 Arachnoid Cysts Intracranial or spinal cavities containing a cerebrospinal-like fluid, the wall of which is composed of arachnoidal cells. They are most often developmental or related to trauma. Intracranial arachnoid cysts usually occur adjacent to arachnoidal cistern and may present with HYDROCEPHALUS; HEADACHE; SEIZURES; and focal neurologic signs. (From Joynt, Clinical Neurology, 1994, Ch44, pp105-115) Arachnoid Diverticula,Leptomeningeal Cysts,Arachnoid Cysts, Intracranial,Intracranial Arachnoid Cysts,Arachnoid Cyst, Intracranial,Arachnoid Diverticulas,Cyst, Arachnoid,Cyst, Intracranial Arachnoid,Cyst, Leptomeningeal,Cysts, Arachnoid,Cysts, Intracranial Arachnoid,Cysts, Leptomeningeal,Diverticula, Arachnoid,Diverticulas, Arachnoid,Intracranial Arachnoid Cyst,Leptomeningeal Cyst
D058627 Megalencephaly A congenital abnormality in which the occipitofrontal circumference is greater than two standard deviations above the mean for a given age. It is associated with HYDROCEPHALUS; SUBDURAL EFFUSION; ARACHNOID CYSTS; or is part of a genetic condition (e.g., ALEXANDER DISEASE; SOTOS SYNDROME). Macrocephaly,Megacephaly,Megalocephaly,Macrocephalies,Megacephalies,Megalencephalies,Megalocephalies

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