当前位置： SCI文献检索 > Hormone Research in Paediatrics期刊下所有文献 > A novel homozygous Q334X mutation in the HSD3B2 gene causing classic 3β-hydroxysteroid dehydrogenase deficiency: an unexpected diagnosis after a positive newborn screen for 21-hydroxylase deficiency.

A novel homozygous Q334X mutation in the HSD3B2 gene causing classic 3β-hydroxysteroid dehydrogenase deficiency: an unexpected diagnosis after a positive newborn screen for 21-hydroxylase deficiency.

Abstract：

BACKGROUND:3β-hydroxysteroid dehydrogenase (3βHSD) type 2 (encoded by HSD3B2) is expressed in the adrenals and gonads. HSD3B2 mutations cause the rare form of congenital adrenal hyperplasia '3βHSD deficiency'. In its classic form, affected individuals have salt wasting early in infancy and may have ambiguous genitalia in both sexes. The presence of peripheral type 1 3βHSD often complicates the hormonal diagnosis of this disorder, in that very high 17α-hydroxypregnenolone levels can be converted extra-adrenally to 17α-hydroxyprogesterone (17OHP). PATIENT AND METHODS:A 46,XX female newborn with no signs of virilization was referred for evaluation of positive 17OHP newborn screening, and developed a salt-wasting crisis at 13 days of age. The confirmatory test revealing highly elevated 17OHP suggested a 21-hydroxylase deficiency, but sequencing of the CYP21A2 gene was not consistent. Further family history suggested a 3βHSD deficiency. The HSD3B2 gene was then sequenced. RESULTS:The patient was homozygous for the novel nonsense mutation Q334X in the HSD3B2 gene, inherited from both parents. CONCLUSIONS:We report a novel mutation of the HSD3B2 gene, Q334X, responsible for a classic 3βHSD deficiency. The clinical and hormonal phenotypes can be complicated in this disorder, and this supports the benefits of 17OHP newborn screening to detect various forms of congenital adrenal hyperplasia.

journal_name

Horm Res Paediatr

journal_title

Hormone research in paediatrics

authors

Jeandron DD,Sahakitrungruang T

doi

10.1159/000336004

subject

Has Abstract

pub_date

2012-01-01 00:00:00

pages

334-8

issue

5

eissn

1663-2818

issn

1663-2826

pii

000336004

journal_volume

77

pub_type

杂志文章

相关文献

Hormone Research in Paediatrics文献大全
  • Monogenic Disorders of Adrenal Steroidogenesis.

    abstract：:Disorders of adrenal steroidogenesis comprise autosomal recessive conditions affecting steroidogenic enzymes of the adrenal cortex. Those are located within the 3 major branches of the steroidogenic machinery involved in the production of mineralocorticoids, glucocorticoids, and androgens. This mini review describes t...

    journal_title：Hormone research in paediatrics

    pub_type： 杂志文章,评审

    doi：10.1159/000488034

    authors： Baranowski ES,Arlt W,Idkowiak J

    更新日期：2018-01-01 00:00:00

  • Occurrence of slipped capital femoral epiphysis in children undergoing gonadotropin-releasing hormone agonist therapy for the treatment of central precocious puberty.

    abstract：BACKGROUND:Obesity, age and hormone imbalances including hypothyroidism and growth hormone deficiency and therapy, but not gonadotropin-releasing hormone agonist (GnRHa) therapy, have been identified as risk factors for slipped capital femoral epiphysis (SCFE). Five of 7 reported cases describe SCFE in children shortly...

    journal_title：Hormone research in paediatrics

    pub_type： 杂志文章

    doi：10.1159/000351028

    authors： Inman M,Hursh BE,Mokashi A,Pinto T,Metzger DL,Cummings EA

    更新日期：2013-01-01 00:00:00

  • Hair Cortisol Concentration in Healthy Children and Adolescents Is Related to Puberty, Age, Gender, and Body Mass Index.

    abstract：INTRODUCTION:Hair cortisol concentrations (HCC) have been found to be related to various common childhood diseases, like otitis media, conjunctivitis, respiratory viral infections, and asthma. However, the confounding effects of age, gender, body mass index (BMI), pubertal stage (Tanner stages), socioeconomic status (S...

    journal_title：Hormone research in paediatrics

    pub_type： 杂志文章

    doi：10.1159/000504914

    authors： Wagner M,Kratzsch J,Vogel M,Peschel T,Gaudl A,Ceglarek U,Thiery J,Hiemisch A,Körner A,Kiess W

    更新日期：2019-01-01 00:00:00

  • Why is the thyroid so prone to autoimmune disease?

    abstract：:The thyroid gland plays a major role in the human body; it produces the hormones necessary for appropriate energy levels and an active life. These hormones have a critical impact on early brain development and somatic growth. At the same time, the thyroid is highly vulnerable to autoimmune thyroid diseases (AITDs). Th...

    journal_title：Hormone research in paediatrics

    pub_type： 杂志文章,评审

    doi：10.1159/000324442

    authors： Saranac L,Zivanovic S,Bjelakovic B,Stamenkovic H,Novak M,Kamenov B

    更新日期：2011-01-01 00:00:00

  • Long-term follow-up and mutation analysis of 27 chinese cases of congenital hyperinsulinism.

    abstract：OBJECTIVES:Long-term clinical follow-up and mutation analysis were performed in 27 Chinese congenital hyperinsulinism patients. METHOD:27 hypoglycemia patients were diagnosed with CHI within 2 years of age. The long-term clinical outcome was analyzed and mutation analysis of 5 hyperinsulinism candidate genes was perfo...

    journal_title：Hormone research in paediatrics

    pub_type： 临床试验,杂志文章

    doi：10.1159/000356911

    authors： Su C,Gong C,Sanger P,Li W,Wu D,Gu Y,Cao B

    更新日期：2014-01-01 00:00:00

  • Molecular Screening of MKRN3, DLK1, and KCNK9 Genes in Girls with Idiopathic Central Precocious Puberty.

    abstract：BACKGROUND:Mutations in the imprinted gene MKRN3 have been described as a common genetic cause of idiopathic central precocious puberty (CPP), in particular in familial cases. However, the exact prevalence of mutations is unknown. Single nucleotide polymorphisms in 2 other imprinted genes, DLK1 and KCNK9, have been ass...

    journal_title：Hormone research in paediatrics

    pub_type： 杂志文章

    doi：10.1159/000477441

    authors： Grandone A,Capristo C,Cirillo G,Sasso M,Umano GR,Mariani M,Miraglia Del Giudice E,Perrone L

    更新日期：2017-01-01 00:00:00

  • Adherence to growth hormone therapy: a practical approach.

    abstract：BACKGROUND:Early detection of suspected poor adherence to growth hormone (GH) therapy is crucial to achieve normal final height in GH-deficient (GHD) patients. PATIENTS:106 children (73 M, 33 F) with a median age of 10.47±3.48 years (mean±standard deviation score (SDS)) exhibited short stature (-1.76±0.64 SDS) and a d...

    journal_title：Hormone research in paediatrics

    pub_type： 杂志文章

    doi：10.1159/000357975

    authors： Bozzola M,Pagani S,Iughetti L,Maffeis C,Bozzola E,Meazza C

    更新日期：2014-01-01 00:00:00

  • Influence of socioeconomic status and body mass index on bone age.

    abstract：BACKGROUND/AIMS:To evaluate the relationship of socioeconomic status (SES) and body mass index (BMI) with skeletal maturation in children from Marrakech (Morocco). METHODS:SES, BMI z-score and bone age (BA) were measured in a cohort of 623 children (280 boys and 343 girls, chronological age (CA) ranged from 6.6 to 18....

    journal_title：Hormone research in paediatrics

    pub_type： 杂志文章

    doi：10.1159/000313371

    authors： Chaumoitre K,Lamtali S,Baali A,Saliba-Serre B,Lahmam A,Aboussad A,Boëtsch G,Panuel M

    更新日期：2010-01-01 00:00:00

  • A new horizon for glucose monitoring.

    abstract：:Regular self-monitoring of blood glucose is crucial for proper insulin dosing and gives a reliable foundation for reasonable glycaemic control. According to recent data, recommended values for glycated haemoglobin A1c as set by the professional associations remain out of the reach for a large proportion of the paediat...

    journal_title：Hormone research in paediatrics

    pub_type： 杂志文章,评审

    doi：10.1159/000368924

    authors： Dovč K,Bratina N,Battelino T

    更新日期：2015-01-01 00:00:00

  • Metabolic syndrome in children: comparison of the International Diabetes Federation 2007 consensus with an adapted National Cholesterol Education Program definition in 300 overweight and obese French children.

    abstract：BACKGROUND/AIMS:Former definitions of metabolic syndrome (MS) in children have been adapted from adult MS definitions using age-related thresholds for each biochemical component, whereas the International Diabetes Federation (IDF) definition is based on absolute values. We compared the IDF childhood MS definition (IDF-...

    journal_title：Hormone research in paediatrics

    pub_type： 杂志文章

    doi：10.1159/000284359

    authors： Druet C,Ong K,Levy Marchal C

    更新日期：2010-01-01 00:00:00

  • The predictive value of the individual components of the metabolic syndrome for insulin resistance in obese children.

    abstract：BACKGROUND/AIMS:The usefulness of the concept of the metabolic syndrome (MS) in its current form has recently been questioned, and its association with insulin resistance is unknown. We assessed whether a multivariate model based on all components of MS expressed on a continuous scale would be a better predictor of a c...

    journal_title：Hormone research in paediatrics

    pub_type： 杂志文章

    doi：10.1159/000327371

    authors： Vos RC,Houdijk EC,van der Kamp HJ,Pijl H,Wit JM

    更新日期：2011-01-01 00:00:00

  • Severe Short Stature in Two Siblings as the Presenting Sign of ACP5 Deficiency.

    abstract：BACKGROUND:ACP5 deficiency is known to cause spondyloenchondrodysplasia (SPENCD), which is characterized by various autoimmune and neurological symptoms in addition to short stature. METHODS:Two siblings from a consanguineous Turkish family, a girl aged 13 years (P1) and a boy aged 8 years (P2), presented to their end...

    journal_title：Hormone research in paediatrics

    pub_type： 杂志文章

    doi：10.1159/000443684

    authors： de Bruin C,Orbak Z,Andrew M,Hwa V,Dauber A

    更新日期：2016-01-01 00:00:00

  • Experience of Octreotide Therapy for Hyperinsulinemic Hypoglycemia in Neonates Born Small for Gestational Age: A Case Series.

    abstract：AIMS:Hyperinsulinemic hypoglycemia (HH) is common in small-for-gestational-age (SGA) neonates. Diazoxide is often used as the first-line medication for HH in SGA neonates. Unfortunately, diazoxide is not authorized in China. We examined the effectiveness of octreotide as an alternative therapy to treat HH in SGA neonat...

    journal_title：Hormone research in paediatrics

    pub_type： 杂志文章

    doi：10.1159/000441108

    authors： Pan S,Zhang M,Li Y

    更新日期：2015-01-01 00:00:00

  • IGF1, IGF1R and SHOX mutation analysis in short children born small for gestational age and short children with normal birth size (idiopathic short stature).

    abstract：BACKGROUND/AIMS:Because the criteria for genetic screening of short children are unknown, we performed genetic analysis of 199 short children born small for gestational age (SGA) or with normal birth size (idiopathic short stature, ISS). METHODS:After selection with a modified scoring system for SHOX and a novel score...

    journal_title：Hormone research in paediatrics

    pub_type： 杂志文章

    doi：10.1159/000338341

    authors： Caliebe J,Broekman S,Boogaard M,Bosch CA,Ruivenkamp CA,Oostdijk W,Kant SG,Binder G,Ranke MB,Wit JM,Losekoot M

    更新日期：2012-01-01 00:00:00

  • Age at menarche in childhood cancer survivors: results of a nationwide survey in Germany.

    abstract：BACKGROUND/AIMS:With rising cure rates of childhood cancer, side effects of treatment are attracting increasing interest. The present analysis evaluates the influence of tumor localization, radiotherapy and chemotherapy on the age of menarche. METHODS:4,689 former pediatric oncology patients, diagnosed 1980-2004, were...

    journal_title：Hormone research in paediatrics

    pub_type： 杂志文章

    doi：10.1159/000336688

    authors： Wessel T,Balcerek M,Reinmuth S,Hohmann C,Keil T,Henze G,Borgmann-Staudt A

    更新日期：2012-01-01 00:00:00

  • The genetics of 3-M syndrome: unravelling a potential new regulatory growth pathway.

    abstract：:3-M syndrome is an autosomal recessive primordial growth disorder characterised by severe postnatal growth restriction caused by mutations in CUL7, OBSL1 or CCDC8. Clinical characteristics include dysmorphic facial features and fleshy prominent heels with a variable degree of radiological abnormalities. CUL7 is a stru...

    journal_title：Hormone research in paediatrics

    pub_type： 杂志文章,评审

    doi：10.1159/000334392

    authors： Hanson D,Murray PG,Black GC,Clayton PE

    更新日期：2011-01-01 00:00:00

  • Epidemiology of childhood type 1 diabetes mellitus: lessons from Central and Eastern European data.

    abstract：BACKGROUND:Over the past 15 years, the incidence of type 1 diabetes mellitus (T1DM) in Central and Eastern Europe has grown rapidly from an initially low rate. This growth cannot be attributed to genetic factors: it appears that changing environmental exposures are responsible, though no single environmental factor can...

    journal_title：Hormone research in paediatrics

    pub_type： 杂志文章

    doi：10.1159/000329168

    authors： Cinek O

    更新日期：2011-01-01 00:00:00

  • The Diagnosis of Polycystic Ovary Syndrome during Adolescence.

    abstract：BACKGROUND/AIMS:The diagnostic criteria for polycystic ovary syndrome (PCOS) in adolescence are controversial, primarily because the diagnostic pathological features used in adult women may be normal pubertal physiological events. Hence, international pediatric and adolescent specialty societies have defined criteria t...

    journal_title：Hormone research in paediatrics

    pub_type： 杂志文章

    doi：10.1159/000375530

    authors： Witchel SF,Oberfield S,Rosenfield RL,Codner E,Bonny A,Ibáñez L,Pena A,Horikawa R,Gomez-Lobo V,Joel D,Tfayli H,Arslanian S,Dabadghao P,Garcia Rudaz C,Lee PA

    更新日期：2015-04-01 00:00:00

  • Impaired bone metabolism in glycogen storage disease type 1 is associated with poor metabolic control in type 1a and with granulocyte colony-stimulating factor therapy in type 1b.

    abstract：BACKGROUND:Glycogen storage disease type 1 (GSD1) is a rare and genetically heterogeneous metabolic defect of gluconeogenesis due to mutations of either the G6PC gene (GSD1a) or the SLC37A4 gene (GSD1b). Osteopenia is a known complication of GSD1. OBJECTIVES:The aim of this study was to investigate the effects of poor...

    journal_title：Hormone research in paediatrics

    pub_type： 杂志文章,多中心研究

    doi：10.1159/000351022

    authors： Melis D,Pivonello R,Cozzolino M,Della Casa R,Balivo F,Del Puente A,Dionisi-Vici C,Cotugno G,Zuppaldi C,Rigoldi M,Parini R,Colao A,Andria G,Parenti G

    更新日期：2014-01-01 00:00:00

  • Evaluation of parathyroid gland function using sodium bicarbonate infusion test for 22q11.2 deletion syndrome.

    abstract：BACKGROUND/AIMS:22q11.2 Deletion syndrome is a congenital malformation syndrome with hypoparathyroidism. The spectrum of parathyroid gland dysfunction ranges from severe neonatal hypocalcemia to subclinical hypoparathyroidism. The parathyroid hormone (PTH) secretory reserve is reduced in a significant number of 22q11.2...

    journal_title：Hormone research in paediatrics

    pub_type： 杂志文章

    doi：10.1159/000315904

    authors： Nagasaki K,Iwasaki Y,Ogawa Y,Kikuchi T,Uchiyama M

    更新日期：2011-01-01 00:00:00

  • Hypercalcemia due to Milk-Alkali Syndrome and Fracture-Induced Immobilization in an Adolescent Boy with Hypoparathyroidism.

    abstract：BACKGROUND:Hypercalcemia of immobilization, while rare, may occur in adolescent boys after fracture. Although not fully understood, the mechanism appears to be related to bone turnover uncoupling, in part mediated by upregulation of RANKL. Animal studies suggest that parathyroidectomy suppresses RANKL-stimulated osteoc...

    journal_title：Hormone research in paediatrics

    pub_type： 杂志文章

    doi：10.1159/000446316

    authors： Henry RK,Gafni RI

    更新日期：2016-01-01 00:00:00

  • Rapid Growth and Early Metastasis of Papillary Thyroid Carcinoma in an Adolescent Girl with Graves' Disease.

    abstract：BACKGROUND:The risk factors for rapid growth and early metastasis of papillary thyroid carcinoma (PTC) and the role of coexisting Graves' disease in the clinical course of PTC remain uncertain in children. CASE DESCRIPTION:We report on a Japanese girl, whose PTC rapidly grew and metastasized within 4 years. Graves' di...

    journal_title：Hormone research in paediatrics

    pub_type：

    doi：10.1159/000491102

    authors： Shimura K,Shibata H,Mizuno Y,Amano N,Hoshino K,Kuroda T,Kameyama K,Matsuse M,Mitsutake N,Sugino K,Yoshimura Noh J,Hasegawa T,Ishii T

    更新日期：2019-01-01 00:00:00

  • Ectopic intrathyroidal thymus in children: a long-term follow-up study.

    abstract：BACKGROUND:Ectopic intrathyroidal thymus has recently been reported in children as a cause of surgery and/or invasive diagnostic procedures when mistaken for a thyroid nodule. Thymus has a unique appearance at ultrasound (US). METHODS:We report a follow-up study (mean 34 months, range 6-84) performed by US on 9 childr...

    journal_title：Hormone research in paediatrics

    pub_type： 杂志文章

    doi：10.1159/000322441

    authors： Segni M,di Nardo R,Pucarelli I,Biffoni M

    更新日期：2011-01-01 00:00:00

  • Thyroid Ultrasound: More Sensitive than Radioactive Iodine Imaging in Detecting Recurrence of Papillary Thyroid Cancer in Two Pediatric Patients.

    abstract：BACKGROUND:Papillary thyroid cancer (PTC) is an uncommon pediatric disease with an excellent prognosis. In follow-up surveillance, neck ultrasound (US), basal and thyroid-stimulating hormone-stimulated serum thyroglobulin (Tg) levels, and diagnostic whole-body radioactive iodine scans (DxWBS) have been traditionally us...

    journal_title：Hormone research in paediatrics

    pub_type：

    doi：10.1159/000487436

    authors： Wise-Oringer BK,Goldis M,Regelmann MO,Klein M,Machac J,Kotlus Rosenberg H,Rapaport R

    更新日期：2018-01-01 00:00:00

  • Dietary Advanced Glycation End Products and Their Potential Role in Cardiometabolic Disease in Children.

    abstract：:The rising incidence of obesity and metabolic diseases such as diabetes mellitus and cardiovascular disease in adolescents and young adults is of grave concern. Recent studies favor a role of lifestyle factors over genetics in the perpetuation of inflammation, insulin resistance and oxidative stress, which are pathoph...

    journal_title：Hormone research in paediatrics

    pub_type： 杂志文章,评审

    doi：10.1159/000444053

    authors： Gupta A,Uribarri J

    更新日期：2016-01-01 00:00:00

  • Gastric autoimmunity in children and adolescents with type 1 diabetes: a prospective study.

    abstract：BACKGROUND/AIMS:Type 1 diabetes (T1DM) is associated with gastric autoimmunity, which is characterized by the presence of parietal cell antibodies (APCA). We investigated gastric autoimmunity prevalence in T1DM children, its manifestations, determinants and association with thyroid gland (anti-Tg, anti-TPO) and pancrea...

    journal_title：Hormone research in paediatrics

    pub_type： 杂志文章

    doi：10.1159/000336923

    authors： Kakleas K,Kostaki M,Critselis E,Karayianni C,Giannaki M,Anyfantakis K,Haramaras I,Fotinou A,Papathanasiou A,Karavanaki K

    更新日期：2012-01-01 00:00:00

  • Population Pharmacokinetics of Diazoxide in Children with Hyperinsulinemic Hypoglycemia.

    abstract：BACKGROUND:Diazoxide is the first-line treatment for pediatric hyperinsulinemic hypoglycemia (HI). This study aimed to elucidate the pharmacokinetics of diazoxide in children with HI. METHODS:We obtained 81 blood samples from 22 children with HI. Measured serum diazoxide concentrations were used for population pharmac...

    journal_title：Hormone research in paediatrics

    pub_type： 杂志文章

    doi：10.1159/000478696

    authors： Kizu R,Nishimura K,Sato R,Kosaki K,Tanaka T,Tanigawara Y,Hasegawa T

    更新日期：2017-01-01 00:00:00

  • Evaluation of vitamin D supplementation doses during pregnancy in a population at high risk for deficiency.

    abstract：AIM/BACKGROUND:Vitamin D supplementation during pregnancy is a well-accepted recommendation worldwide; however, the debate about the correct dose is ongoing. We aimed to compare daily doses of 600, 1,200, and 2,000 IU in this randomized, controlled study. METHODS:The study group consisted of 91 pregnant women aged 16-...

    journal_title：Hormone research in paediatrics

    pub_type： 杂志文章,随机对照试验

    doi：10.1159/000358833

    authors： Yesiltepe Mutlu G,Ozsu E,Kalaca S,Yuksel A,Pehlevan Y,Cizmecioglu F,Hatun S

    更新日期：2014-01-01 00:00:00

  • Identification of GPR39 receptor and ghrelin receptor in thyroid tissues in paediatric patients with immune and non-immune thyroid diseases.

    abstract：:The preproghrelin gene is responsible for generating ghrelin and obestatin, two gastric peptides with opposite effects on food intake. Obestatin suppresses food intake and digestive motility through interaction with GPR39 (GPCR). Ghrelin is supposed to be a link connecting metabolism and energy homeostasis with growth...

    journal_title：Hormone research in paediatrics

    pub_type： 杂志文章

    doi：10.1159/000347218

    authors： Bossowski A,Czarnocka B,Harasymczuk J,Moniuszko A,Bardadin K,Lyczkowska A,Hanusek K,Bossowska A

    更新日期：2013-01-01 00:00:00

  • Metabolic benefits of growth hormone therapy in idiopathic short stature.

    abstract：:The US Food and Drug Administration approved use of recombinant human growth hormone (GH) for the treatment of idiopathic short stature (ISS) in children; however, few studies have evaluated metabolic outcomes. This article addresses whether children with ISS treated with GH experience the same metabolic benefits as c...

    journal_title：Hormone research in paediatrics

    pub_type： 杂志文章,评审

    doi：10.1159/000330165

    authors： Dahlgren J

    更新日期：2011-01-01 00:00:00