scholarly journals A rare case of macroprolactinoma in a patient with Mayer–Rokitansky–Kuster–Hauser (MRKH) syndrome

Author(s):  
Nur Aisyah Zainordin ◽  
Fatimah Zaherah Mohd Shah ◽  
Nur Aini Eddy Warman ◽  
Sharifah Faradila Wan Muhammad Hatta ◽  
Aimi Fadilah Mohamad ◽  
...  

Summary A 17-year-old lady presented with primary amenorrhoea, headache, nausea and lethargy. She had delayed pubertal development that also includes under-developed breast (Tanner Stage 2). Hormonal investigations showed a high serum prolactin level of 1 680 000 mIU/L (normal value: 45–375 mIU/L), with low oestradiol, progesterone, follicular-stimulating hormone and luteinizing hormone. Early morning cortisol level was 206 nmol/L (normal value: >450 nmol/L), thyroxine was 7.5 pmol/L (normal value: 9.0–24.0 pmol/L) with TSH 5.091 mIU/L (normal value: 0.4–4.5 mlU/L). A pituitary MRI showed a 2.7 (AP) × 3.7 (W) × 4.6 cm (CC) macroadenoma, with invasion into the left cavernous sinus and encasement of cavernous portion of the left internal carotid artery. MRI pelvis showed absent uterus, cervix and 2/3 upper vagina confirming Mullerian hypoplasia. Cytogenetics showed 46XX. These findings were suggestive of Mayer–Rokitansky–Kauser–Hauser (MRKH) syndrome with the presence of a pituitary macroprolactinoma and panhypopituitarism. She was treated with hydrocortisone, levothyroxine and cabergoline. Repeated MRI showed a reduction in tumour size by approximately 50%. This case illustrated a rare coexistence of these two conditions, being only the third reported case in the world. In addition, this would be the first case of a functioning pituitary adenoma in a patient with MRKH syndrome. Learning points Comprehensive hormonal and radiological investigations are important in the management of a young patient with primary amenorrhoea. Coexistence pathology of two separate pathologies should be considered in patient presenting with primary amenorrhoea. Early diagnosis of MRKH or any disorders of sex development should be treated early, providing pharmacological, surgical, psychological and emotional support to the patient and reducing risk of associated complications. Abnormal pituitary hormones, particularly panhypopituitarism, would impose greater impact not only psychologically but also metabolically leading to cardiovascular, morbidity and mortality risks in this patient if not treated early. A multidisciplinary approach is necessary for patients presenting with MRKH to ensure appropriate treatments and follow-up across the lifespan of the patient.

Author(s):  
Yotsapon Thewjitcharoen ◽  
Veekij Veerasomboonsin ◽  
Soontaree Nakasatien ◽  
Sirinate Krittiyawong ◽  
Thep Himathongkam

Summary Primary amenorrhea could be caused by disorders of four parts: disorders of the outflow tract, disorders of the ovary, disorders of the anterior pituitary, and disorders of hypothalamus. Delay in diagnosis and hormone substitution therapy causes secondary osteoporosis. Herein, we report a case of a 23-year-old phenotypical female who presented with primary amenorrhea from 46, XX gonadal dysgenesis but had been misdiagnosed as Mayer–Rokitansky–Kuster–Hauser (MRKH) syndrome or Mullerian agenesis. The coexistence of gonadal dysgenesis and MRKH was suspected after laboratory and imaging investigations. However, the vanishing uterus reappeared after 18 months of hormone replacement therapy. Therefore, hormone profiles and karyotype should be thoroughly investigated to distinguish MRKH syndrome from other disorders of sex development (DSD). Double diagnosis of DSD is extremely rare and periodic evaluation should be reassessed. This case highlights the presence of estrogen deficiency state, the uterus may remain invisible until adequate exposure to exogenous estrogen. Learning points: An early diagnosis of disorders of sex development (DSD) is extremely important in order to promptly begin treatment, provide emotional support to the patient and reduce the risks of associated complications. Hormone profiles and karyotype should be investigated in all cases of the presumptive diagnosis of Mayer–Rokitansky–Kuster–Hauser (MRKH) syndrome or Mullerian agenesis. The association between 46, XX gonadal dysgenesis and Mullerian agenesis has been occasionally reported as a co-incidental event; however, reassessment of the presence of uterus should be done again after administration of exogenous estrogen replacement for at least 6–12 months. A multidisciplinary approach is necessary for patients presenting with DSD to ensure appropriate treatments and follow-up across the lifespan of individuals with DSD.


Author(s):  
Marinos C Makris ◽  
Konstantinos C Koumarelas ◽  
Apostolos S Mitrousias ◽  
Giannos G Psathas ◽  
Athanasios Mantzioros ◽  
...  

Summary Until now, less than ten cases of extra-adrenal chromaffin cell tumors have been reported to be localized to the spermatic cord area. All published studies report benign tumors with a diameter <2–3 cm and no invasion of the testis. In this article, we present one case of a giant malignant paraganglioma in the testis of a patient who had initially been operated for a giant mass in the scrotum. The mass developed in approximately 4 months. This is the first study reporting the following findings: i) paraganglioma was found exclusively in the testis, invading the testicle and not the spermatic cord, ii) it was malignant with lung metastasis, and iii) its size was 17.5 cm×10 cm×9.5 cm. We present the first – giant – malignant paraganglioma. Moreover, it is the first case report of a paraganglioma in the testis. Learning points This is the first study reporting the following findings: Paraganglioma found exclusively in the testis, invading the testicle and not the spermatic cord. It is malignant with lung metastasis. It is of the size 17.5 cm×10 cm×9.5 cm.


Author(s):  
Aoife Garrahy ◽  
Matilde Bettina Mijares Zamuner ◽  
Maria M Byrne

Summary Coexistence of autoimmune diabetes and maturity-onset diabetes of the young (MODY) is rare. We report the first case of coexisting latent autoimmune diabetes of adulthood (LADA) and glucokinase (GCK) MODY. A 32-year-old woman was treated with insulin for gestational diabetes at age 32 years; post-partum, her fasting blood glucose was 6.0 mmol/L and 2-h glucose was 11.8 mmol/L following an oral glucose tolerance test, and she was maintained on diet alone. Five years later, a diagnosis of LADA was made when she presented with fasting blood glucose of 20.3 mmol/L and HbA1C 125 mmol/mol (13.6%). GCK-MODY was identified 14 years later when genetic testing was prompted by identification of a mutation in her cousin. Despite multiple daily insulin injections her glycaemic control remained above target and her clinical course has been complicated by multiple episodes of hypoglycaemia with unawareness. Although rare, coexistence of latent autoimmune diabetes of adulthood and monogenic diabetes should be considered if there is a strong clinical suspicion, for example, family history. Hypoglycaemic unawareness developed secondary to frequent episodes of hypoglycaemia using standard glycaemic targets for LADA. This case highlights the importance of setting fasting glucose targets within the expected range for GCK-MODY in subjects with coexisting LADA. Learning points: We report the first case of coexisting latent autoimmune diabetes of adulthood (LADA) and GCK-MODY. It has been suggested that mutations in GCK may lead to altered counter-regulation and recognition of hypoglycaemia at higher blood glucose levels than patients without such mutation. However, in our case, hypoglycaemic unawareness developed secondary to frequent episodes of hypoglycaemia using standard glycaemic targets for LADA. This case highlights the importance of setting fasting glucose targets within the expected range for GCK-MODY in subjects with coexisting LADA to avoid hypoglycaemia.


Author(s):  
Gemma Xifra ◽  
Silvia Mauri ◽  
Jordi Gironès ◽  
José Ignacio Rodríguez Hermosa ◽  
Josep Oriola ◽  
...  

Summary Background: Thyroid hormone resistance (RTH) is a rare cause of thyroid dysfunction. High TSH levels, as described in RTH syndrome, are known to be associated with an increased risk of developing thyroid nodules with subsequent growth and malignancy. Patient findings: In 2006, a 29-year-old Caucasian man presented with a palpable mass in the neck. Increased free thyroxine and triiodothyronine levels were found in the context of unsuppressed TSH levels, despite no signs or symptoms of hyperthyroidism. Ultrasonography revealed a multinodular and enlarged goitre, and fine-needle aspiration cytology revealed suspicious features of malignancy. After excluding pituitary tumour and levothyroxine (l-T4) treatment, the patient was diagnosed with generalized RTH. Screening for all the known mutations in thyroid hormone receptor-β (TR β (THRB)) was negative. Thyroidectomy disclosed five Hürthle adenomas and three hyperplasic nodules. Euthyroidism was achieved after surgery with 6.1 μg/kg per day of l-T4. Conclusion: RTH may be a risk factor that predisposes to the development of multiple Hürthle cell adenomas. To our knowledge, this is the first case of multiple Hürthle cell adenomas in a patient with RTH. Learning points High TSH levels, as described in RTH syndrome, are known to be associated with an increased risk of developing thyroid nodules, with subsequent growth and malignancy. The exact role of TR β mutants in thyroid carcinogenesis is still undefined. We report the first case of multiple Hürthle cell adenomas associated with RTH.


2021 ◽  
Vol 14 (4) ◽  
pp. e239495
Author(s):  
Grace Cham ◽  
Brooke O'Brien ◽  
Rebecca MN Kimble

Idiopathic hypogonadotropic hypogonadism (IHH) refers to a family of genetic disorders that affect the production and/or action of gonadotropic-releasing hormone, resulting in reduced serum levels of sex steroids. This condition has a prevalence of 1–10 cases/100 000 births and is characterised by the absence of spontaneous pubertal development. In women, the condition is characterised by the onset of normal adrenarche, with the absence of thelarche and menarche. Pubertal induction for breast development and uterine growth with oestradiol, and sequential maintenance of a normal menstrual cycle and adequate oestrogen for bone health, with an oestrogen and progesterone, is considered first-line treatment. Pregnancy can be achieved in patients who have received and responded to treatment with ovulation induction with exogenous gonadotrophins. Advances in genetic testing have led to increased research and understanding of the underlying genetics of IHH with gene mutations described in up to 50% of all IHH cases.


Author(s):  
Andrea Trombetta ◽  
Ester Conversano ◽  
Giorgio Cozzi ◽  
Andrea Taddio ◽  
Flora Maria Murru ◽  
...  

A 3-year-old toddler was admitted for a 5-day history of worsening painful limping on his left leg. History was remarkable only for a minor trauma 2 days before the onset of symptoms; the boy fell on his buttocks but was walking normally in the following days. No fever was reported. Pain was also present at night, with no response to oral ibuprofen.On physical examination, the patient refused to stand on his left leg, palpation of the left buttock evoked pain, and exorotation and abduction of the left hip were only moderately limited, without local signs of inflammation such as redness, swelling or skin warming. Blood tests showed elevated erythrocyte sedimentation rate (ESR) (98 mm/hour, normal value <20 mm/hour) with normal C reactive protein (CRP) level (0.5 mg/dL, normal value <0.5 mg/dL). His white cell count was 12 110 x 109/L, haemoglobin was 127 g/L and PLT was 430 x 109/L. Creatine kinase values were within the normal range.An X-ray of the pelvis was unremarkable. An ultrasound of the left hip showed a 2 mm articular effusion.QuestionsBased on the clinical picture and laboratory tests, what is the most likely diagnosis?Perthes disease.Pyomyositis.Septic arthritis.Bone fracture.Leukaemia.What test could confirm the diagnosis?Bone scintigraphy.CT.Bone marrow aspirate.MRI.Intra-articular puncture.What is the mainstay of management of this condition?Wait and see.Surgical excision.Antibiotic course.Antineoplastic treatment.Answers can be found on page 2.


1978 ◽  
Vol 87 (3) ◽  
pp. 449-455
Author(s):  
Martha Medina ◽  
Adalberto Parra ◽  
Hugo E. Scaglia ◽  
Laura Nieto ◽  
Gregorio Pérez-Palacios

ABSTRACT The neuroendocrine function of a 19 years old female dwarf with primary amenorrhoea and lack of sexual development (asexual ateleiosis) was studied. Undetectable fasting plasma levels of growth hormone (GH) and a lack of response to three different provocative stimuli was observed. Oestrogen administratin did not modify the GH response. Thyroid and adrenal function were within normal limits. Undetectable plasma levels of immunoreactive oestradiol and lack of oestrogenic activity in vaginal smears indicated absence of ovarian function. Low levels of circulating gonadotrophins with a significant rise after synthetic LH-RH administration was demonstrated, while clomiphene citrate failed to induce ovulation. Following 6 months of continuous GH administration a significant increase in the growth rate was evident, whereas no pubertal development was observed. These data are interpreted as demonstrating the suprahypophyseal origin of the sexual infantilism in a patient with inappropriate GH secretion. It is suggested that a combined deficiency of LH-RH and GH-RH may account for the aetiology of this disorder.


Author(s):  
Susan R. Kahn ◽  
Richard Leblanc ◽  
Abbas F. Sadiko ◽  
I. George Fantus

ABSTRACT:Background:Pituitary dysfunction caused by intracranial aneurysms is rare. We report a patient with the unique feature of hyperprolactinemia to a degree previously seen only with prolactinsecreting tumours.Method:Case report.Result:A 42-year-old woman had a galactorrhea, left-sided headache, reduced vision in the left eye and a left temporal hemianopsia. Serum prolactin was elevated (365 μg/L). Cranial computed tomography (CT) revealed a suprasellar mass, which carotid angiography showed to be a left internal carotid artery aneurysm. At craniotomy, this aneurysm and a smaller one of the ophthalmic artery were repaired, and the patient's vision returned to normal. The prolactin level fell to normal. Follow-up CT showed no evidence of pituitary adenoma or hypothalamic lesion.Conclusions:Carotid aneurysm can cause reversible pituitary dysfunction. A prolactin level >300 μg/L is not a reliable cut-off for distinguishing prolactin-secreting adenomas from other causes of elevated prolactin. A co-existing prolactinoma was felt to be ruled out by both a normal CT scan and normal prolactin levels following aneurysm repair. Patients with marked hyperprolactinemia should be considered for angiography or MRI to rule out carotid aneurysm, since the consequences of pituitary exploration in this setting are potentially grave.


2013 ◽  
Vol 45 (1-2) ◽  
pp. 24-29
Author(s):  
Nasreen Akhter ◽  
Badrunnesa Begum

The Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome, the second most common cause of primary amenorrhoea usually remains undetected until puberty and is characterized by congenital aplasia or hypoplasia of the uterus and most of the vagina in women showing normal secondary sexual characteristics. MRKH syndrome may be isolated (type I) but is more frequently associated with renal, vertebral, and, to a lesser extent, auditory and cardiac defects (MRKH type II or MURCS association). Complete evaluation of MRKH patient includes genital, urinary tract, cardiac, spinal and auditory assessment which need multidisciplinary approach. This review is an attempt to discuss the subtypes, associated anomalies, diagnostic consideration and treatment recommendations of patients with MRKH syndrome and aimed to make the specialists of other discipline, general physicians and the gynaecologists well aware about the entity. DOI: http://dx.doi.org/10.3329/bmjk.v45i1-2.13626 Bang Med J (Khulna) 2012; 45 : 24-29


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