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.

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.

Leydig cell hypoplasia illustrates a rare category of 46, XY DSD "disorders of sex development". We report a case of a patient assigned to the female sex carrying a DSD with 46 XY karyotype on Leydig cell hypoplasia associated with pituitary stalk agenesis. This association has not been described yet in the literature. The patient was first admitted at the age of five for failure to thrive (FTT) with an abnormality of sexual development. The FTT was related to complete GH deficiency on pituitary stalk agenesis. Upon investigation, the patient was diagnosed as carrying a DSD 46, XY. The endocrine evaluation revealed low testosterone, FSH, and LH levels with a negative HCG test. The abdominopelvic ultrasound objectified two testicles in the inguinal folds. ²After discussing the case in a multidisciplinary consultation meeting, and taking into account the wishes of the family and the psychiatric expertise, the selected sex that was assigned to the patient was female. At the age of 19, the patient underwent a bilateral gonadectomy and the anatomopathological examination confirmed the diagnosis of Leydig cell hypoplasia. Leydig cell hypoplasia is a rare autosomal recessive syndrome, diagnosed by clinical, biological, radiological, histological, and genetic evidence. Its association with pituitary stalk agenesis has not been described in the literature. This syndrome is characterized by the inability of the chorionic gonadotropin luteinizing hormone receptor in Leydig cells to respond to luteinizing hormone, thereby causing feminization of a male fetus. The treatment has three components: hormonal treatment, surgical treatment, and psychological care.