Table 1. (continued ) Variable (normal range) Day of admission Day of discharge Prothrombin time (9.3-12.4 seconds) 10.9 Lipase U/L (, 78) 36 CA 19-9 U/mL , 5.30 Acetaminophen ug/mL (0.0-10.0) 5.6 Ferritin ng/mL (11.0-307.0) 410.2 Iron ug/dL (65-175) 140 Ceruloplasmin mg/dL (16.0-31.0) 31.3
Background: A possible association between multiple sclerosis (MS) and dysregulation of hypothalamic-pituitary axis has been reported and its endocrine manifestations can be confused with many nonspecific symptomatology attributed to MS. We report such a case and present the improvement of symptoms independent of MS therapy. Clinical Case: Case of a 45 years-old female with history of type 2 diabetes mellitus, dyslipidemia, HTN, obesity class I and MS that was evaluated for follow up with complaints of fatigue, weakness, somnolence and memory problems. No menstrual disturbances with regular cycles. Denies weight changes, anorexia, nausea, vomiting or abdominal discomfort. Previous hormonal workup showed normal levels of cortisol, ACTH, prolactin and TSH. Nonetheless, on repeated hormonal profile due to nonspecific complaints, patient was found with normal TSH (2.65 mIU/mL, 0.3-3.0 mIU/mL) and low free T4 (0.65 ng/dL, 0.78-2.19 ng/dL). Repeated thyroid function tests by equilibrium dialysis showed a borderline low FT4 (0.8 ng/dL, 0.78-2.19 ng/dL), despite a persistently normal TSH (2.26 mIU/mL, 0.3-3.0 mIU/mL). Suspecting hypopituitarism, a complete hormonal workup revealed a low normal serum cortisol in early morning of 8.39 mcg/dL and ACTH of 16.7 pg/mL, normal prolactin of 10.5 ng/mL and a first IGF-1 evaluation of 68.9 ng/mL, which was low for female age range (98-261 ng/mL). Due to concerns for possible complications during an insulin tolerance test, a cosyntropin stimulation test was performed with adequate peak cortisol response at 30.5 mcg/dL. Most recent brain MRI without pituitary protocol was remarkable for multiple bilateral demyelinating plaques compatible with MS diagnosis that also involved the left thalamus, although no other area adjacent to the hypothalamus or pituitary gland was described. The patient was subsequently started on levothyroxine replacement to a goal of free T4 at the upper normal range, with overall improvement in symptoms and quality of life. Growth hormone status and gonadal axis to be reevaluated. This case emphasizes the importance of clinical judgement and reminds us that overlapping symptoms can lead to misdiagnosis, particularly in conditions with nonspecific symptomatology as MS. Conclusion: This is an unusual case of a patient with multiple sclerosis presenting with hypopituitarism suggesting the possibility of hypothalamic disturbance as the etiology. It has been proposed that demyelinating MS lesions in fiber bundles in and adjacent to the hypothalamus may compromise hypothalamic function. Mechanisms for fatigue in MS have been mostly associated with hyperactivity of HPA axis, not found in our patient. Hypothalamic dysfunction can be frequently overlooked due to overlapping symptoms with MS, despite being a treatable condition that can greatly improve quality of life in these patients.
Background: Testicular regression syndrome (TRS), also known as vanishing testes syndrome, is a condition of 46, XY males presenting with male phenotypic genitalia and testicular absence. Normal testes are thought to have once existed in fetal life and subsequently atrophied following a catastrophic event. It may present as partial or complete absence of testicular tissue. Fibrotic remnants are commonly found upon surgical exploration. Case: This is the case of a 20-year-old male with a birth-diagnosis of primary hypogonadism. The patient was born prematurely at 5 months following a motor vehicle accident that resulted in his mother’s death. Neonatal evaluation for cryptorchidism revealed no radiological evidence of intra-abdominal testicular mass. Referral to a pediatric-endocrinologist was done at early childhood. Testosterone replacement was started at 12 years of age and pubarche was adequate. After surgical exploration, a testicular remnant was surgically removed. Pathology report revealed fibrotic tissue, yet no histological testicular tissue was found. Due to lack of testes in the scrotum, testicular prosthesis was implanted at age 14, but the etiology of the hypogonadism was never elucidated. The patient was initially seen in our adult-endocrinology clinics at age 21. Upon evaluation, secondary sex characteristics were adequate for age. Penile length was of 3.5 inches. Bilateral testicular prostheses were palpable, and no gynecomastia was present. Despite testosterone replacement, total testosterone was 3.38 ng/ml (n; 2.41-8.27 ng/ml), FSH was 106 mIU/ml (n; 1.4-18.1 mIU/ml) and LH was 34.7 mIU/ml ml (n; 1.5-9.3 miu/ml). Based on history, laboratory workup and surgical pathology, TRS was presumed as the etiology of this patient’s hypogonadism. Testosterone therapy was adjusted to reach physiological expected levels. Conclusion: TRS is an underdiagnosed cause of hypergonadotropic hypogonadism. It is supposed that the initial embryologic development was normal, followed by a vascular accident. There is no clear recommended approach for evaluating a patient once the diagnosis of TRS is suspected. Diagnostic methods may include hormonal and karyotype testing, imaging, and surgical exploration. Furthermore, although clinical recommendations have been published for other disorders of sex development, TRS management has been understudied. Testosterone replacement therapy at the typical time of puberty ensures the development of secondary sexual characteristics, bone health and pubertal growth. Unlike Klinefelter syndrome and cryptorchidism, TRS has not been associated with increased risk of cancer. Thus, it is important to establish the etiology to avoid invasive and unnecessary workup, which will result in psychological distress and excessive healthcare costs.
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