Multiple Endocrine Involvement in Two Pediatric Patients with Kearns-Sayre Syndrome

Abstract

We present 2 cases of progressively severe Kearns-Sayre syndrome (KSS) with multisystemic affectation and atypical endocrine and cutaneous features, a 16-year-old patient (case 1) and a 5-year-old patient (case 2). Endocrine studies showed high glucose and glycohemoglobin concentrations with normal pancreatic reserve and low values of ACTH, cortisol, LH and FSH in case 1. Normal ACTH values with low concentrations of cortisol and PTH were observed in case 2. Southern blot analysis and PCR amplification revealed the presence of a deletion of approximately 6.7 kb in the mitochondrial DNA of both patients. Endocrinological studies suggest that adrenal insufficiency may be an additional feature of KSS that worsens the clinical evolution of the patients. In spite of a normal pancreatic reserve, insulin therapy should be considered in patients with diabetes mellitus of mitochondrial origin.

Recognition of mitochondrial DNA deletion syndrome with non-neuromuscular multisystemic manifestation

“…Thirteen reports were single patient cases with various clinical presentations. 8,9,11,15,16,[22][23][24][25][26][27][28][29] One report had 4 patients with hypoparathyroidism, 17 another had 7 patients with KSS, 3 one had 3 patients with Pearson syndrome, 14 one had 2 patients with multiple endocrine problems, 6 and another had 20 KSS patients. 19 Overall, 34 patients had typical KSS, CPEO, or MM, 14 patients had multisystemic disorders with initial presentation of non-neural, nonmuscular clinical manifestations.…”

“…5 Patients who survive the hematopoietic and pancreatic dysfunction of infancy can go on to develop KSS at a later age. Recently, mtDNA deletion syndromes have been reported in patients with various clinical manifestations, including Addison disease, 6 -8 atypical Pearson presentation, 9 -11 cyclic vomiting, 6,9,12 severe renal tubulopathy, 11 hepatic dysfunction, 13 dysarthria, 9,10 organic acidopathy, 14,15 and hypoparathyroidism and hypocalcemia. 6,16,17 The mitochondrial DNA deletion syndrome is defined as any case with a single mtDNA deletion, regardless of the clinical phenotype.…”

Strokes in mitochondrial diseases

“…Отмечаются задержка физического и полового развития, ихтиоз с очагами гиперпигментации, вальгусная девиация голеней и высокий свод стопы. Нарушения со стороны эндокринной системы -дефицит гормона роста, гипогонадизм, сахарный диабет, гипопаратиреоз, наруше-ние адреналового обмена [63,66,[72][73][74][75][76][77][78][79][80].…”

Sexual Function and Fertility in Adult Females and Males with Congenital Adrenal Hyperplasia

“…Our experience is still much based on case reports as only few reports have been published evaluating childbirth rates and/or fertility in male patients [10, 11, 40, 41]. Furthermore, the results of the reports have been conflicting – some reports suggesting normal fertility even in untreated patients [40], and some recent reports showing low sperm counts and apparent infertility in a large proportion of patients [10, 11]. While there are several reasons for infertility in women with 21-OHD, only two mechanisms leading to infertility have been suggested in men: benign testicular (adrenal rest) tumors and suppression of gonadotropin secretion due to adrenal androgen excess.…”

“…These findings suggested the significance of psychosocial factors for the low childbirth rate. Two recently published papers have reported testicular failure in a high number of men with classic 21-OHD [10, 11]. In an American study 12/30 males had pathologic findings already on physical examination: 8 men had testicular nodules (adrenal rests), and 4 men had decreased testicular volume.…”