Qing-hua Guo

Pituitary stalk interruption syndrome in Chinese people: clinical characteristic analysis of 55 cases.

Objective Pituitary stalk interruption syndrome (PSIS) is characterized by the absence of pituitary stalk, pituitary hypoplasia, and ectopic posterior pituitary. Due to the rarity of PSIS, clinical data are limited, especially in Chinese people. Herein, we analyzed the clinical characteristics of patients diagnosed with PSIS from our center over 10 years. Patients and Methods We retrospectively analyzed the clinical manifestations and laboratory and MRI findings in 55 patients with PSIS. Results Of the 55 patients with PSIS, 48 (87.3%) were male. The average age was 19.7±6.7 years and there was no familial case. A history of breech delivery was documented in 40 of 45 patients (88.9%) and 19 of 55 patients (34.5%) had a history of dystocia. Short stature was found in 47 of 55 patients (85.5%) and bone age delayed 7.26±5.37 years. Secondary sex characteristics were poor or undeveloped in most patients. The prevalence of deficiencies in growth hormone, gonadotropins, corticotropin, and thyrotropin were 100%, 95.8%, 81.8%, 76.3%, respectively. Hyperprolactinemia was found in 36.4% of patients. Three or more pituitary hormone deficiencies were found in 92.7% of the patients. All patients had normal posterior pituitary function and absent pituitary stalk on imaging. The average height of anterior pituitary was 28 mm, documented anterior pituitary hypoplasia. Midline abnormalities were presented in 9.1% of patients. Conclusions The clinical features of our Chinese PSIS patients seem to be different from other reported patients in regarding to the higher degree of hypopituitarism and lower prevalence of midline defects. In addition, our patients were older at the time of case detection and the bone age was markedly delayed. We also had no cases of familial PSIS.

Accurate combined preoperative localization of insulinomas aid the choice for enucleation: a single institution experience over 25 years.

BACKGROUND/AIMS To assess the accuracy of combined preoperative localizations and analyze the change in management strategy of operation of insulinoma. METHODOLOGY One hundred and seventy-two patients with a diagnosis of insulinoma at a tertiary hospital between 1985 and 2010 were reviewed, where accurate combined preoperative localization before surgical exploration was the primary management policy of insulinoma. Operation details for 147 patients were checked. RESULTS An average of 2.89 preoperative localization studies including 1.61 non-invasive studies and 1.28 invasive studies were utilized per patient. Contrast-enhanced ultrasonography (CEUS) was the most sensitive invasive modality (88.1%) whereas magnetic resonance imaging (MRI) was the most sensitive non-invasive modality (64.0%). All 147 patients underwent complete surgical resection which included 126 enucleations and 18 distal pancreatectomies with a cure rate of 95.2% (140/147) at a median follow-up of 45 months (range 1-248). The postoperative morbidity and long-term outcome of enucleation was similar to distal pancreatectomy despite a higher rate of microscopic margin involvement. CONCLUSIONS Accurate combined preoperative localization of insulinomas is useful of the choice of enucleation, eliminates the need for blind distal pancreatectomy and avoids re-operation. Whenever possible, a pancreas-sparing approach such as enucleation should be adopted.

Pituitary stalk interruption syndrome in 58 Chinese patients: clinical features and genetic analysis

Pituitary stalk interruption syndrome (PSIS) is rare and its clinical features and pathogenesis are poorly understood. This study characterized the clinical and genetic features of PSIS in Chinese patients.

Characterization of Papillary Thyroid Microcarcinomas Using Sonographic Features in Malignant Papillary Thyroid Cancer: A Retrospective Analysis

AbstractThe diagnosis of malignant thyroid nodules is still a clinical challenge. This study aimed to determine the ultrasonographic characteristics of papillary thyroid carcinoma.The ultrasonographic and pathological data of 2453 thyroid nodules in a cohort of 1895 Chinese patients who underwent thyroidectomy from January 2010 to December 2012 were retrospectively reviewed.Anteroposterior and transversal (AP/TR) diameters ≥1, solid structure, infiltrative margins, hypoechoic appearance, and microcalcifications were more common in malignant nodules than in benign nodules (P < 0.01). These ultrasonographic features were independent risk factors of malignancy (P < 0.01) as determined by logistic regression analysis. Based on multivariate analysis, these characteristics were also present in large nodules (diameter >10 mm). However, in small nodules (diameter ⩽10 mm), only AP/TR ≥1 and infiltrative margins were independent risk factors of malignancy (P < 0.01).Ultrasonography is of high diagnostic value for malignant thyroid nodules and may help to improve the differential diagnosis. Small and large nodules have distinct ultrasonographic features.

Usefulness of dynamic MRI enhancement measures for the diagnosis of ACTH‐producing pituitary adenomas

The distinction between corticotropin (ACTH)‐producing pituitary adenomas and occult ectopic ACTH neoplasms is a challenge and frequently complicated by the detection of nonfunctioning pituitary adenomas on dynamic magnetic resonance imaging (DMRI). Herein, we explored quantitative differences in DMRI measures from ACTH‐producing pituitary adenomas.

Clinical and genetic analysis of three Chinese patients with steroid 5α-reductase type 2 deficiency

Abstract Steroid 5α-reductase type 2 deficiency (5α-RD2) is a rare autosomal recessive inherited disorder caused by mutations in the SRD5A2 gene. Its clinical features and pathogenesis in Chinese patients are poorly understood. This study aimed to characterize the clinical features and genetically analyze the SRD5A2 gene in three Chinese 5α-RD2 patients. The patients were characterized by ambiguous genitalia and spontaneous virilization without breast development at puberty. Elevated post-human chorionic gonadotropin stimulation T/DHT ratios were useful indicators of 5α-RD2 (with ratios of 20.4, 20.1, and 26.6 in the three patients, respectively). Two compound heterozygous mutations in the SRD5A2 gene were identified: p.G203S/p.R246Q in patients 1 and 2 and p.G203S/c.655delT in patient 3. The father and the mother of patients 1 and\xa02 were carriers of p.R246Q and p.G203S, respectively. p.G203S appears to be common in Chinese 5α-RD2 patients. Early genetic analysis should be performed in suspected patients to improve prognosis.

Thyrotrophic status in patients with pituitary stalk interruption syndrome.

Abstract Pituitary stalk interruption syndrome (PSIS) is associated with simultaneous or subsequent pituitary hormone deficiencies (PHDs). Although the clinical features of multiple PHDs are well known, the status of the thyrotrophic axis in PSIS has not been thoroughly investigated. The clinical data of 89 PSIS patients and 34 Sheehan syndrome (SS) patients were retrospectively analyzed. The prevalence of central hypothyroidism in the PSIS patients and the SS patients was 79.8% and 70.6%, respectively. The thyroid-stimulating hormone (TSH) levels in the PSIS patients were significantly higher in comparison with the SS patients (5.13 ± 3.40 vs 1.67 ± 1.20 mU/L, P < .05). TSH elevation (8.79 ± 3.17 mU/L) was noticed in 29 of 71 (40.85%) hypothyroid PSIS patients but not in the 24 hypothyroid SS patients. The TSH levels in the hypothyroid PSIS patients were significantly higher in comparison with the euthyroid PSIS patients (5.42 ± 3.67 vs 3.66 ± 1.50 mU/L). Thyroid hormone replacement significantly reduced the TSH levels in the PSIS patients with elevated TSH levels from 7.24 ± 0.98 to 1.67 ± 1.51 mU/L (P < .05). The logistic regression analysis suggested that TSH level was not significantly associated with pituitary stalk status and height of the anterior pituitary gland. PSIS is a newly recognized cause of central hypothyroidism. The proportion and amplitude of TSH elevations are higher in PSIS than in other causes of central hypothyroidism.

A Craniopharyngioma Associated With Elevated Cerebrospinal Fluid HCG Concentrations Misdiagnosed as a Germinoma

Craniopharyngiomas and germinomas are both rare cranial tumors that most commonly present during childhood or adolescence. Although these tumors have different origins, their clinical and radiological features may be similar. In this article, we report the case of a 35-year female patient with clinical and radiological findings and increased human chorionic gonadotrophin (HCG) levels in the cerebrospinal fluid (CSF) that were consistent with a germinoma. However, pathological analysis revealed a craniopharyngioma. This case report indicates that HCG, which is regarded as a specific tumor marker for germinomas in the differential diagnosis of intracranial lesions, is also detectable in other kinds of suprasellar tumors, such as craniopharyngiomas.

Multi‐genic pattern found in rare type of hypopituitarism: a whole‐exome sequencing study of Han Chinese with pituitary stalk interruption syndrome

Pituitary stalk interruption syndrome (PSIS) is a rare type of hypopituitarism manifesting various degrees of pituitary hormone deficiency. Although mutations have been identified in some familial cases, the underpinning mechanisms of sporadic patients with PSIS who are in a vast majority remain elusive, necessitating a comprehensive study using systemic approaches. We postulate that other genetic mechanisms may be responsible for the sporadic PSIS. To test this hypothesis, we conducted a study in 24 patients with PSIS of Han Chinese with no family history using whole‐exome sequencing (WES) and bioinformatic analysis. We identified a group of heterozygous mutations in 92% (22 of 24) of the patients, and these genes are mostly associated with Notch, Shh, Wnt signalling pathways. Importantly, 83% (20 of 24) of the patients had more than one mutation in those pathways suggesting synergy of compound mutations underpin the pathogenesis of sporadic PSIS.

Thyroid hormone resistance syndrome caused by heterozygous A317T mutation in thyroid hormone receptor β gene: Report of one Chinese pedigree and review of the literature.

Abstract Background: Thyroid hormone resistance syndrome (THRS) is a rare disorder with increased concentrations of free thyroxine (FT4) and triiodothyronine (FT3), but normal or slightly increased thyroid-stimulating hormone (TSH). The mutations in the thyroid hormone receptor β (THRβ) gene are thought to be the main pathogenesis. Objectives: The aims of this study were to present 1 pedigree of Chinese THRS, summarize their clinical characteristics, and analyze the gene mutation. Methods: The clinical characteristics and thyroid function of the proband and his family members were collected. Gene mutations were analyzed by DNA sequencing. Results: The proband and his mother exhibited symptoms of hyperthyroidism, such as palpitations, heat intolerance, and perspiration. The mother also had atrial fibrillation. The rest of the kindred did not display clinical manifestations of hyper- or hypothyroidism. DNA sequencing revealed a heterozygous G>A missense mutation at position 949 in Exon 9 of THRβ both in the patient and his mother, which led to the transition from alanine to threonine at position 317 of THRβ protein (A317T), whereas the rest of the kindred did not share this mutation. The proband and his mother were diagnosed with pituitary resistance to thyroid hormone. Oral administration of methimazole was stopped and β-receptor blockers were administrated. Conclusions: We present 1 pedigree of THRS with heterozygous A317T mutation in THRβ gene in the proband and his mother, which is the first reported mutation in Chinese and provides a comprehensive review of available literature.