ACTA ENDOCRINOLOGICA (BUC)

There are no new national growth references for the Romanian population and the current recommendations for short stature evaluation is the use of the Swiss growth charts developed based on a longitudinal study. The aim of the present paper is to present the new synthetic growth references for Romanian children. Material and methods. We used local Romanian data from 9 studies with information on height and weight obtained between 1999 and 2016. Based on their plausibility and methodology six studies were selected for generating the National Synthetic Growth References for Romanian Children based on the specific methodology described previously. The selected studies included 8407 subjects measured in schools/kindergartens. Age is reported in years covering a range from 3-18 years. Height and weight were measured at a precision of 0.1 cm and 0.1 kg. All children were measured at normal temperature, in light clothes, without footwear. Results. We present the charts and tables with the common centiles for height, weight and body mass index for boys and girls. Conclusion. We suggest synthetic growth references based upon recent growth data from 6 different Romanian regions as new National Growth Charts for Romanian children.

An 18 years old, tall man presented for circumoral numbness, paresthesias, and hypocalcaemia, without carpopedal spasm or seizures. Previous medical history revealed bilateral cataract and osseous cysts on limbs at the age of 12. Hypocalcaemia resistant to calcium treatment and mild increased TSH levels were present. At diagnosis, we noticed a normal phenotype with tall stature, moderate hypocalcaemia (5.8 mg/dL), hyperphosphatemia (5.08 mg/dL) and significantly higher than normal intact parathormone (PTH) levels (518 pg/mL), in the presence of normal serum levels of 25-hydroxy vitamin D (53.56 ng/mL). The mother and the family members have been found in good health. All these data strongly suggested sporadic pseudohypoparathyroidism type Ib (PHP-Ib), but with some features of PHP - type Ia, like the osseous cysts. We were not able to perform molecular genetic tests. The nearly complete recovery of clinical and biochemical signs (normalization of PTH, calcaemia, phosphatemia, and a normal DXA osteodensitometry) after 2 years of chronic treatment with activated 1,25- dihydroxycholecalciferol (2.00-0.75 μg/day) indirectly, but strongly confirmed the diagnosis of pseudohypoparathyroidism. The patient may have resistance to TSH evidenced by high TSH\r\n(range 4.8-7.5 mIU/L), with normal thyroid hormone levels, absence of goiter and normal TPO antibodies. The TRH test (400 μg i.v.) showed a response of TSH, and also of serum thyroxine and triiodothyronine in a range that did not clarify the diagnosis. This association of the resistance to TSH with type Ib PHP was relatively recently reported by two groups (17,20) and before them it was reported only in PHP-Ia. Our patient also showed mild thrombocytopenia, with normal bleeding time, indicating also a possible Gsα deficiency in platelets. In conclusion, our patient with sporadic pseudohypoparathyroidism without clinical phenotype of Albright hereditary osteodystrophy is highly suggestive for the type Ib PHP. A possible resistance to TSH and thrombocytopenia associated are features related to the genetic mechanisms found also in type Ia PHP. It is tempting to suggest that this case is one of the new variants of pseudohypoparathyroidism-Ib, recently reported.

Introduction: There is a large agreement about the positive effect of GH therapy in patients with panhypopituitarism. Objective: We investigated the potential psychological effect of GH replacement in hypopituitary patients secondary to surgery + radiotherapy for pituitary tumors. The study design was prospective, non-placebo controlled.\r\nPatients and methods: after informed consent, we enrolled 14 subjects with pituitary tumor, submitted to transfrontal (FS) or transsphenoidal (SS) surgery and with GH < 1 ng/mL after insulin-induced hypoglycemia. Our subjects were aged 50.2 + 14 years, 11 men, 3 women, with craniopharyngioma (n=3, all postfrontal surgery=post FS), nonfunctioning pituitary adenoma (n=10, 6 post FS, 4 post SS) and 1 macroprolactinoma (post FS). Seven subjects were submitted to radiotherapy. GH (Norditropin) was provided by Novonordisk, in 5 mg vials, self-administered by a specific device (pen) provided by manufacturer in a dose of 0.01 mg/kg/day. GH and IGF 1 were assayed monthly, using a commercial kit. Quality of Life (QoL) was assessed monthly by a 22 item questionnaire provided by Novonordisk, which measures a total QoL score, as well as subscores for depression, anxiety, personal well being and self perceived sense of energy. A statistically significant improvement of QoL score is indicative of positive effect of therapy. Fasting glucose and tumoral dimensions were monitorised every 3 months; 2 patients were excluded from study after diabetes mellitus occurrence; one additional patient discontinued therapy for fears of tumoral outgrowth.\r\nResults: a positive effect could be noticed concerning QoL total score and subscores, concerning auto-perceived level of energy and personal well being. Prior radiotherapy tends to blunt this beneficial effect. IGF 1 increased first 2 months, then we noticed a significant and sustained increase of IGF 1 with frequent upper normal values, especially in more obese and in men rather than in women. Adiposity and BMI decreased during therapy, which favorably influence QoL.\r\nConclusions: patients benefit psychologically from GH therapy. We found an unexpected high rate of metabolic complication (2 out of 14 subjects drop out study because of diabetes mellitus). Prior radiotherapy might blunt the psychological effect of GH.

Objectives. The objective of this study was to assess the impact of endometriosis on the quality of life. Patients and methods. Study group of 205 women, aged between 18-45 years old, hospitalized in the “Cuza-Voda” Hospital of Iasi, between 2013-2015. We used the Fertility Problem Inventory, the Endometriosis Health Profile and the Beck Depression Inventory. Results. We first realized a descriptive analyses of patients’ health related quality of life - 60% of women reported higher infertility distress associated with relationship issues caused by difficulties to conceive. The descriptive analysis over the quality of life in patients with endometriosis suggests that the high level of stress related factors, are: the loss over the control of the symptoms, dyspareunia and altered emotional status. Regarding the sexual aspect of life, almost a quarter of the women complained about an altered sexual status, due to both fear of failing in conceiving and dyspareunia caused by the endometriosis. The descriptive analysis over the infertility related stress suggests that the factors associated with a high level of stress are: sadness, pessimism, feeling of failure, irritability, lack of confidence, self-hatred and fatigue. Conclusions. Patients with endometriosis are dealing daily with a large spectrum of symptoms, including pain, dyspareunia, emotional instability and high levels of stress, which have a negative impact upon the quality of life, by lowering it on different levels. Also, within the present study we showed a significant presence of high infertility stress in patients of all ages that lead to depression and social anxiety.

Thyroid tissue ectopically located in the ovary can be reported accidentally after adnexectomy, but as a primary cause of hyperthyroidism this diagnosis is rare. The clinical search for a functional ectopic thyroid tissue requires intense clinical focus and a multidisciplinary approach. Case Description. This case report demonstrates a patient with a history of Graves’ disease who had undergone thyroidectomy combined with postoperative 131I radioablation. Despite the previous treatment, she developed an outburst of hyperthyroidism ten years later. Only very close follow-up enabled us to disclose the right condition. The ovarian source of thyroid hormone production was removed by laparoscopic adnexectomy and a right sided benign ovarian struma was confirmed. Conclusion. Most patients treated by thyroidectomy and radioiodine do not require extended periods of followup or postoperative investigations, but when the clinical or laboratory signs change, clinicians should be prepared to perform the necessary re-evaluation in order to provide the best care.

Turner syndrome (TS) is the most common form of chromosomal hypogonadism in women. Clinical features are correlated with the haploinsufficiency of X genes which produces a precocious ovarian degenerescence, sexual hormones secretion deficiency and primary sterility. The review of medical literature reported 87 patients with different cytogenetic form of TS that have 185 pregnancies. In 45,X/46,XX women were described 61 pregnancies in 32 patients. In X homogeneous monosomy were described 43 pregnancies in 21 patients followed by X trisomy mosaicism which was identified in 9 women with 45,X/47,XXX formula (20 pregnancies) and at 11 patients was described 45,X/46,XX/47,XXX formula (35 pregnancies). An increased risk for abnormal pregnancies was proved by frequent miscarriages: 30 cases in 45,X/46,XX, followed by 16 in 45,X/46,XX/47,XXX and 13 in X homogeneous monosomy. Other possible gestational complications in patients with TS could be: dissection of aorta, endocrine diseases (diabetes mellitus, hypothyroidism), arterial hypertension and eclampsia, dystocia. The spontaneous menarche and pregnancy in TS patients are rare events, and usually the gestation is marked by obstetrical complications. The patients with 45,X/46,XX chromosomal formula have the highest risk for chromosomal abnormality in foetus and for miscarriage. The worst prognosis was cited for TS patients with partial X monosomy.

Context. Several enlarged parathyroid glands could be found during thyroid surgery in normocalcemic patients without evidence of primary or secondary hyperparathyroidism, indicating multiglandular parathyroid gland disease (MGD). Objective. Clinical role of various levels of serum ionized calcium (Ca2+) in patients diagnosed with incidental MGD during thyroid surgery remains controversial. The aim of the study was to evaluate the features of PHPT and the clinical role of serum Ca2+ in normocalcemic patients diagnosed with incidental MGD. Study design. A prospective study of patients with normal preoperative Ca2+ to be operated on for thyroid diseases in 2010-2013 and diagnosed with MGD during thyroid surgery. Methods. An analysis of clinical data from 3,561 patients to be surgically treated for thyroid diseases revealed 219 (6%) patients with MGD and normal serum Ca2+. Further data analyses showed patients with MGD and high normal (≥1.25 – 1.3 mmol/L) serum Ca2+ (n = 89) and with moderate-low (1.0 – 1.24 mmol/L) serum Ca2+ (n = 130). Results. Primary hyperparathyroidism was diagnosed intra- and post-operatively in 48 (54%) patients with high-normal serum Ca2+ and in 2 (2%) patients with moderate-low serum Ca2+ (p<0.0001). Parathyroid hormone, serum Ca2+ as well as urine calcium excretion were elevated in 2 (2%) patients with moderate-low serum Ca2+ and in 18 (20%) patients with high-normal Ca2+ at follow-up (p<0.0001). Conclusion. Serum Ca2+ level within the normal range, but higher than 1.25 mmol/L (high-normal) is associated with primary hyperparathyroidism, which should be considered in patients with visually diagnosed MGD, but without clinical symptoms of hyperparathyroidism.

Background. Ovarian hyperstimulation syndrome (OHSS) is a potentially life-threatening complication of the luteal\r\nphase or early pregnancy after ovulation induction or ovarian stimulation. The late OHSS form presents an onset more than 10 days after ovulation triggering and is\r\ninfluenced by pregnancy-related HCG secretion.\r\nReport. This paper presents three cases of pregnancy-related OHSS after IVF/ICSI cycles discussing risk factors and management according to European Guidelines.\r\nResults. Individual risk factors are identified such as low BMI, high antral follicle count at the beginning of the ovarian stimulation, high estradiol over 3000 pg/ml.\r\nPatients had moderate OHSS (case 2) and severe OHSS (case 1 and 3). In-patient treatment was 3-14 days. OHSS resolved in\r\nall cases, without manifestations of the critical form.\r\nConclusion. The duration of OHSS is longer in the late form, is pregnancy-related and should be monitored for adverse\r\npregnancy outcomes. However the incidence of fatal risks is low and the treatment is successful.

We report the case of a 6.6 years old boy, born to healthy unrelated parents, from a normal pregnancy, admitted for severe growth retardation. His height was 71 cm\r\n(-9.3 SD), with a weight of 6.6 kg and he presented a triunghiular face, mycrognatia, proeminent nose and hypertelorism resulting in a ?bird headed? profile. He associated clinodactyly of the 5th finger and a slightly longer left leg. Tanner stages were P1 G1. The\r\nbiochemical panel was normal, but he presented mild hypocromic anemia. The thyroid function was normal, and the IGF1 low. The karyotype was 46 XY and the bone age 4.5\r\nyears. The pituitary computed tomography revealed empty sella. Based on the clinical picture, the possible diagnosis of Seckel syndrome was suspected. A short course of treatment with Metandienonum 0.04 mg/kg/day for 3 months was recommended, without success (growth speed of 6 cm/year - -0.14 SD)

Smith-Lemli-Opitz syndrome is an autosomal recessive disorder caused by mutations of 3-hydroxysterol &#8211;7reductase gene (DHCR7) which maps to 11q12-13 and was the first discovered defect in cholesterol biosynthesis resulting in a congenital dysmorphology syndrome. We present the case of a 46,XY newborn with ambiguous genitalia and multiple congenital anomalies (atrial septal defect, ventricular septal defect, syndactyly of the second and third toe, cleft palate, webbed neck, small fontanels, mesomelia, simian palmar crease, micrognathia, wide nasal bridge with anteverted nostrils, low set ears). Hormonal assessment performed at twelve days revealed a decreased testosterone level (0.03 ng/mL), a high estradiol level (448.8 pg/mL), normal LH (2.8UI/mL), DHEAS (86.61?g/dL), progesterone (1.34ng/mL) and 17 hydroxyprogesterone (1.08ng/mL) levels. Cholesterol was low (44mg/dL) confirming the diagnostic of Smith-Lemli-Opitz syndrome.