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• Rudimentary uteri, especially bilateral rudimentary uteri, were quite common in MRKH syndrome. • Uterine remnants can be relatively large, especially the unilateral rudimentary uterus. • Presence of endometrium and related complications are not rare in MRKH syndrome. • Existence of endometrium and complications are more frequent in unilateral rudimentary uterus.

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BackgroundIsolated hypothalamic-pituitary Langerhans cell histiocytosis (HPLCH) is very rare. We investigated the clinicopathological characteristics, endocrine function changes, BRAFV600E mutations and treatments of isolated HPLCH.MethodsWe identified seven patients with isolated HPLCH by reviewing the clinical and pathological files in our hospital from 2007 to 2015. The clinical characteristics of the seven patients were retrospectively reviewed, especially the endocrine function changes. Immunostaining and mutation profiling of BRAFV600E were performed.ResultsThe seven HPLCH patients included three men and four women, aged 9–47 years. All patients presented with symptoms of central diabetes insipidus (CDI), and four displayed anterior pituitary hypofunction as well. Magnetic resonance imaging showed hypothalamic-pituitary axis involvement in all patients. There was no evidence for the involvement of other organs in all seven patients. Langerhans cell histiocytosis was confirmed by neuroendoscopic procedures, and immunohistochemical staining showed that all cases (7/7) were positive for CD68, CD1a, Langerin, and S-100. The BRAFV600E mutation was detected in three of the six cases (3/6). Six patients had follow-up information; all received desmopressin acetate and high-dose corticosteroid therapy, and two patients received radiotherapy.ConclusionsOur study indicated that all patients with isolated HPLCH had CDI as the earliest symptom, and more than half of the patients had anterior pituitary deficiencies. The BRAFV600E mutation is a common genetic change in HPLCH patients. Treatment of HPLCH patients is difficult, and the progressive loss of endocrine function is irreversible in most cases.

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Severe haemophilia A is a hereditary disease with clotting factor VIII (FVIII) <1%. These severe patients suffer spontaneous bleeding in muscles and joints. 1,2 Recurrent joints bleeding can lead to arthropathy. Iron and haemoglobin deposited on the surface of the joint synovium activate inflammatory reactions, leading to synovitis. 3,4 As a result, the joint is more prone to recurrent bleeding, becoming a target joint. Eventually, cartilage and subchondral bone damage develop. These pathogenic processes result in fibrotic joints, loss of joint function, and even disability, which seriously reduces the quality of life (QOL) of the affected children with severe haemophilia. 5,6 In the past, due to the limitation of drug sources and economic conditions, most children with haemophilia in China were treated on

Incidence of abnormally located ovary was significantly increased in patients with MRKH syndrome. Such knowledge is important for infertility treatment, evaluation of pelvic pain, and surgical planning for MRKH patients.