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Open access

Carlos Tavares Bello, Patricia Cipriano, Vanessa Henriques, João Sequeira Duarte and Conceição Canas Marques

Summary

Granular cell tumours (GCT) are rare, slow-growing, benign neoplasms that are usually located in the head and neck. They are more frequent in the female gender and typically have an asymptomatic clinical course, being diagnosed only at autopsy. Symptomatic GCT of the neurohypophysis are exceedingly rare, being less than 70 cases described so far. The authors report on a case of a 28-year-old male that presented to the Endocrinology clinic with clinical and biochemical evidence of hypogonadism. He also reported minor headaches without any major visual symptoms. Further laboratory tests confirmed hypopituitarism (hypogonadotrophic hypogonadism, central hypothyroidism and hypocortisolism) and central nervous system imaging revealed a pituitary macroadenoma. The patient underwent transcranial pituitary adenoma resection and the pathology report described a GCT of the neurohypophysis with low mitotic index. The reported case is noteworthy for the rarity of the clinicopathological entity.

Learning points:

  • Symptomatic GCTs are rare CNS tumours whose cell of origin is not well defined that usually give rise to visual symptoms, headache and endocrine dysfunction.

  • Imaging is quite unspecific and diagnosis is difficult to establish preoperatively.

  • Surgical excision is challenging due to lesion’s high vascularity and propensity to adhere to adjacent structures.

  • The reported case is noteworthy for the rarity of the clinicopathological entity.

Open access

Judith Gerards, Michael M Ritter, Elke Kaminsky, Andreas Gal, Wolfgang Hoeppner and Marcus Quinkler

Summary

DAX1 (NR0B1) is an orphan nuclear receptor, which plays an important role in development and function of the adrenal glands and gonads. Mutations in DAX1 cause X-linked adrenal hypoplasia congenita (X-linked AHC), which is characterized by adrenal insufficiency (AI) and hypogonadotropic hypogonadism (HHG). Affected boys present with adrenal failure usually in childhood and, later in life, with delayed puberty. However, patients with a late-onset form of X-linked AHC have also been described in the past years. We report a male patient who presented with symptoms of an adrenal crisis at the age of 38 years and was later diagnosed with HHG. Family history was positive with several male relatives diagnosed with AI and compatible with the assumed X-chromosomal inheritance of the trait. Direct sequencing of DAX1 of the patient revealed a hemizygous cytosine-to-thymine substitution at nucleotide 64 in exon 1, which creates a novel nonsense mutation (p.(Gln22*)). In order to compare the clinical presentation of the patient to that of other patients with X-linked AHC, we searched the electronic database MEDLINE (PubMed) and found reports of nine other cases with delayed onset of X-linked AHC. In certain cases, genotype–phenotype correlation could be assumed.

Learning points:

  • X-linked AHC is a rare disease characterized by primary AI and hypogonadotropic hypogonadism (HHG). The full-blown clinical picture is seen usually only in males with a typical onset in childhood.

  • Patients with a late-onset form of X-linked AHC have also been described recently. Being aware of this late-onset form might help to reach an early diagnosis and prevent life-threatening adrenal crises.

  • Adult men with primary AI of unknown etiology should be investigated for HHG. Detecting a DAX1 mutation may confirm the clinical diagnosis of late-onset X-linked AHC.

  • In relatives of patients with genetically confirmed X-linked AHC, targeted mutation analysis may help to identify family members at risk and asymptomatic carriers, and discuss conscious family planning.

Open access

K Majumdar, M Barnard, S Ramachandra, M Berovic and M Powell

Summary

Tuberculosis (TB) is an important cause of mortality and morbidity across the world. In 2–5% of all cases of systemic TB, the C is affected, with lesions reported in the meninges, cortex and ventricles. Intrasellar tuberculomas, however, are extremely rare. We report the interesting case of a young female patient who presented with secondary hypothyroidism and hyperprolactinaemia. She was treated successfully for pituitary TB. We also highlight and discuss some interesting (and hitherto unreported) endocrine issues. Radiological and histological features and treatment of pituitary TB are discussed using this case as an example.

Learning points

  • Intrasellar TB continues to be a rare presentation, but incidence and prevalence are expected to grow with increasing numbers of multidrug-resistant TB and shrinking geographical boundaries across the world.

  • Pituitary TB can present with features of a typical adenoma, but has certain radiological and histological features that help to differentiate from an adenoma.

  • Patients can present with a variety of endocrine abnormalities at different times.

  • The presence of an intrasellar mass in individuals at a high risk of developing TB, or with a previous history of systemic TB, should prompt the diagnosis of pituitary TB. In such individuals, it may be worth considering a trial of anti-tuberculous therapy, before considering surgery.