Endocrine Abstracts

A 35 year old gentleman with a history of 47 XXY Klinefelter Syndrome (KS) and previous orchidopexy presented to the endocrine service with a two-week history of left sided testicular pain. Examination revealed a tender left testicle. Testicular ultra-sound confirmed bilateral atrophic testes and a 5 mm hypoechoic lesion in the left upper pole. This patient presented with KS at the age of 15 years with gynaecomastia and elevated gonadotrophins. After urgent urological review a...

Introduction: After menopause, an abrupt drop in estrogen levels happens, while ovary androgens secretion declines gradually with aging. This relative hyperandrogenism may lead to the development of hyperandrogenic symptoms. However, the development of marked hirsutism and/or symptoms/signs of virilization, make necessary a detailed study in order to rule out tumorous cause (from adrenal glands or ovaries).Case report: 58 years old woman with progressive...

Introduction: Cryptorchidism is the most common abnormality of male sexual development. Approximately 5% of cases of cryptorchidism are associated with vanishing testes syndrome. This rare condition occurs when an initially normal testicle that existed in fetal life subsequently atrophies. Affected patients usually have normal male external genitalia and hypergonadotropic hypogonadism. This disease is usually diagnosed in early childhood allowing for normal sexual development ...

Introduction: The term disorder of sexual development (DSD) refers to a congenital condition characterised by a discordance in the development of chromosomal, gonadal and anatomical sex. The inborn errors of metabolism in these disorders due to genetic mutations lead to anomalous genitalia.Case report: A 16-year-old girl without significant family history was referred to our department for primary amenorrhea. The physical examination revealed: height of ...

Introduction: Type 1 autoimmune polyglandular syndrome is a rare entity, presenting typically during childhood and comprising a variable combination of autoimmune endocrine and non-endocrine diseases that differ in their immunological features. This phenotypical heterogeneity may difficult the identification of this syndrome.Clinical case: 33 year-old female, presenting with secondary amenorrhoea at the age of 13, and by that date diagnosed with hypergon...

Introduction: Triple X syndrome is the most common female chromosomal abnormality, with an estimated incidence of 1/1000 female newborns. Most of the women are phenotypically normal, apart from being taller than average. Possible additional problems are psychiatric disorders, genitourinary malformations, EEG abnormalities, scoliosis and premature ovarian insufficiency.Case report: 46-year-old female, referred to the Endocrinology department due to second...