Primary hyperparathyroidism is a relatively common endocrine disorder that can lead to hypercalcemia and, consequently, cause long-term renal and skeletal complications. Usually, the diagnosis of this disorder is made at an asymptomatic stage. We report three cases of primary hyperparathyroidism revealed by acute pancreatitis, which is an unusual initial manifestation. The three patients, aged 55, 61, and 78 years, experienced acute epigastric pain accompanied by vomiting. Laboratory tests showed hyperlipasemia, and the abdominal CT scan revealed acute necrotizing pancreatitis. After an investigation into the underlying causes, the diagnosis of primary hyperparathyroidism was confirmed, and imaging identified the presence of parathyroid adenoma in all three patients. Parathyroidectomy was performed and the anatomopathological examination confirmed the diagnosis of parathyroid adenoma.
Simpson-Golabi-Behmel syndrome (SGBS) is a rare genetic disorder that is characterized by the overgrowth of various parts of the body. We present a unique case of a young man with SGBS associated with pituitary insufficiency. This association has not been described yet in the literature. The patient was diagnosed with SGBS at 12 years, which was further confirmed through genetic testing (de novo nonsense mutation of the GPC3 gene). At the age of 18, the patient consulted for alteration of the general condition with asthenia. Laboratory evaluation revealed pituitary insufficiency consisting of central hypothyroidism associated with partial secondary adrenal insufficiency. The pituitary MRI was unremarkable. So far, Pituitary insufficiency has never been described in SGBS cases. To our knowledge, this is the first case reported in the literature.
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare congenital disorder that affects the female reproductive system, resulting in uterovaginal agenesis. It’s typically presented as primary amenorrhoea in adolescence in female with normal development of secondary sexual characteristics and 46, XX karyotype. In this article, we report an unusual case of MRKHS of a girl of 7 years old who consulted for premature thelarche & pubarche. She has a normal karyotype (46, XX) with normal external genetalia. Gonadotropin releasing hormone (GnRH) stimulation test revealed a peak LH level of 1.77 UI/l and peak FSH level of 5.44 UI/l. Imaging disclosed advanced bone age at 10 years. Pelvic MRI showed uterine hypoplasia with partial vaginal agenesis.
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