Article
Endocrinology & Metabolism
Ja Hye Kim, Yunha Choi, Soojin Hwang, Gu-Hwan Kim, Han-Wook Yoo, Jin-Ho Choi
Summary: This study investigated the clinical characteristics of endocrine dysfunction in patients with CHD7 mutations, revealing a diverse phenotypic spectrum with most patients exhibiting short stature and delayed puberty. Endocrine evaluation, particularly for growth and pubertal impairment, is essential for improving the quality of life for these patients.
ENDOCRINE CONNECTIONS
(2022)
Review
Endocrinology & Metabolism
Biagio Cangiano, Rita Indirli, Eriselda Profka, Elena Castellano, Giovanni Goggi, Valeria Vezzoli, Giovanna Mantovani, Maura Arosio, Luca Persani, Giorgio Borretta, Emanuele Ferrante, Marco Bonomi
Summary: This study reports two rare cases of patients with both Klinefelter syndrome and unexplained hypogonadotropic hypogonadism, characterized by incomplete puberty, low gonadotropins levels and specific clinical features. This occurrence is unusual in KS and is associated with anosmia, other hormone deficiencies, and heterogeneous karyotypes.
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
(2021)
Review
Biochemistry & Molecular Biology
Roberto Oleari, Valentina Massa, Anna Cariboni, Antonella Lettieri
Summary: Gonadotropin releasing hormone (GnRH) neurons are crucial for controlling sexual reproduction, and their development is influenced by a coordinated action of multiple molecules. Congenital Hypogonadotropic Hypogonadism (CHH) is a rare disorder caused by genetic mutations, leading to extreme phenotypic variability in patients.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Genetics & Heredity
Alexander F. Gileta, Maria L. Helgeson, Jacqueline M. M. Leonard, Louise C. Pyle, Hari P. Subramanian, Kelly Arndt, Colin P. Hawkes, Daniela del Gaudio
Summary: This study describes a female patient with skeletal dysplasia, hypogonadotropic hypogonadism, and anosmia who carries compound heterozygous variants in SEM3A. The findings support the concept that biallelic loss-of-function SEM3A variants cause a syndromic form of short stature and expand the phenotypic spectrum associated with this condition.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2021)
Article
Endocrinology & Metabolism
Andrew A. A. Dwyer, Maria Stamou, Isabella R. R. McDonald, Ella Anghel, Kimberly H. H. Cox, Kathryn B. B. Salnikov, Lacey Plummer, Stephanie B. B. Seminara, Ravikumar Balasubramanian
Summary: This study on men with HH delineates the clinical presentation, neuroendocrine profile, rate of reversal, and genetics of the rare fertile eunuch (FE) variant. It reveals that men with the FE variant exhibit the mildest neuroendocrine defects of HH men and the FE sub-type represents the first identified phenotypic predictor for reversible HH.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Endocrinology & Metabolism
Andrew A. Dwyer, Maria Stamou, Ella Anghel, Shira Hornstein, Danna Chen, Kathryn B. Salnikov, Isabella R. McDonald, Lacey Plummer, Stephanie B. Seminara, Ravikumar Balasubramanian
Summary: This study determined the correlation between genotypic severity and pubertal and neuroendocrine phenotypes in IHH men. Partial puberty and LH greater than or equal to 2.10 IU/L serve as proxies for pulsatile LH secretion. ANOS1 gene protein-truncating variants (PTVs) confer severe reproductive phenotypes.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Review
Endocrinology & Metabolism
Julian Martinez-Mayer, Maria Ines Perez-Millan
Summary: PROKR2 encodes a receptor that binds PROK1 and PROK2. Mutations in PROKR2 can cause abnormal olfactory bulb formation and defects in GnRH neuron migration. Patients with PROKR2 mutations typically present with hypogonadotropic hypogonadism, anosmia/hyposmia, or Kallmann Syndrome. Recent studies have also linked PROKR2 variants to pituitary disorders.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Rossella Cannarella, Carmelo Gusmano, Rosita A. Condorelli, Andrea Bernini, Jurgen Kaftalli, Paolo Enrico Maltese, Stefano Paolacci, Astrit Dautaj, Giuseppe Marceddu, Matteo Bertelli, Sandro La Vignera, Aldo E. Calogero
Summary: This study investigated five unrelated patients with cHH/KS and identified a new pathogenic variant in the CHD7 gene and three new variants of unknown significance in the IL17RD, FGF17, and DUSP6 genes. Further functional studies are needed to confirm their association with cHH.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Endocrinology & Metabolism
Jin-Ho Choi, Arum Oh, Yena Lee, Gu-Hwan Kim, Han-Wook Yoo
Summary: This study identified seven rare sequence variants in FGFR1 in patients with KS and nIHH, and probands with FGFR1 mutations displayed a wide phenotypic spectrum. These results expand the phenotypic spectrum of FGFR1 mutations and suggest a broader biological role of FGFR1 in reproduction.
EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES
(2021)
Article
Genetics & Heredity
Bronwyn G. A. Stuckey, Timothy W. W. Jones, Bryan K. K. Ward, Scott G. G. Wilson
Summary: A 28-year-old man with congenital hypogonadotropic hypogonadism (CHH) was found to carry the GNRH1 p.R31C mutation, which was reported as pathogenic and dominant. The same mutation was found in his son at birth, but the hormonal changes associated with minipuberty were confirmed in the infant at 64 days. Further genetic sequencing identified a second variant, AMHR2 p.G445_L453del, in the patient and not in his son, suggesting a digenic cause of the patient's CHH. The observed GNRH1 mutation may not be dominant or exhibits incomplete penetrance and variable expressivity. This report highlights the importance of assessing inherited genetic disorders of hypothalamic function during the time window of minipuberty.
Article
Endocrinology & Metabolism
Luigi Maione, Julie Sarfati, Celine Gonfroy-Leymarie, Sylvie Salenave, Sylvie Brailly-Tabard, Philippe Chanson, Severine Trabado, Ursula B. Kaiser, Jacques Young
Summary: This study compared the natural history and reproductive status of CHH and lesional AHH patients, and found that CHH patients were younger at diagnosis, with smaller testicular volume, while AHH patients had a later onset and higher fertility.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Genetics & Heredity
Rahma Mkaouar, Lamia Cherif Ben Abdallah, Chokri Naouali, Saida Lahbib, Zinet Turki, Sahar Elouej, Yosra Bouyacoub, Maali Somai, Kenneth Mcelreavey, Anu Bashamboo, Sonia Abdelhak, Olfa Messaoud
Summary: The study identified genetic mechanisms underlying hypogonadotropic hypogonadism in two Tunisian patients, highlighting the importance of oligogenic inheritance in this disorder. Digenic combination predictions revealed potential disease-causing variant pairs, emphasizing the complexity of genetic factors contributing to Congenital Hypogonadotropic Hypogonadism.
FRONTIERS IN GENETICS
(2021)
Article
Endocrinology & Metabolism
Weiwei Xu, Weibin Zhou, Haiyang Lin, Dan Ye, Guoping Chen, Fengqin Dong, Jianguo Shen
Summary: This case study presents a novel mutation in the CHD7 gene in a male patient with Kallmann syndrome, contributing to the understanding of this condition. Treatment with HCG and HMG resulted in improved health condition and secondary sexual characteristics in the patient. Exploration of the novel mutation may further enhance our current understanding of Kallmann syndrome.
BMC ENDOCRINE DISORDERS
(2021)
Article
Endocrinology & Metabolism
Nazli Eskici, Shrinidhi Madhusudan, Kirsi Vaaralahti, Venkatram Yellapragada, Celia Gomez-Sanchez, Juho Karkinen, Henrikki Almusa, Nina Brandstack, Paivi J. Miettinen, Yafei Wang, Taneli Raivio
Summary: This study reports a patient with White-Sutton syndrome, characterized by developmental delay and autism spectrum disorder, who also had CHH and KS simultaneously. It was found that POGZ gene mutations do not hinder the formation of GnRH neurons but may cause CHH/KS by affecting the size and motility of the anterior neural progenitor pool and neurite outgrowth.
EUROPEAN JOURNAL OF ENDOCRINOLOGY
(2023)
Article
Endocrinology & Metabolism
Bingqing Yu, Kepu Chen, Jiangfeng Mao, Bo Hou, Hui You, Xi Wang, Min Nie, Qibin Huang, Rui Zhang, Yiyi Zhu, Bang Sun, Feng Feng, Wen Zhou, Xueyan Wu
Summary: This study aimed to evaluate the diagnostic accuracy of different olfactory evaluation tools in patients with congenital hypogonadotropic hypogonadism (CHH). The results showed that both SROS and MRI-OA had high accuracy in distinguishing between Kallmann syndrome (KS) and normosmic CHH (nCHH). Structural abnormalities in the olfactory apparatus were common in nCHH patients, while those with unilateral olfactory bulb dysplasia usually had normal olfaction.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Genetics & Heredity
Ingeborg Barisic, Ljubica Boban, Diana Akhmedzhanova, Jorieke E. H. Bergman, Clara Cavero-Carbonell, Ieva Grinfelde, Anna Materna-Kiryluk, Anna Latos-Bielenska, Hanitra Randrianaivo, Natalya Zymak-Zakutnya, Ivona Sansovic, Monica Lanzoni, Joan K. Morris
EUROPEAN JOURNAL OF MEDICAL GENETICS
(2018)
Article
Genetics & Heredity
Ester Garne, Anke Rissmann, Marie-Claude Addor, Ingeborg Barisic, Jorieke Bergman, Paula Braz, Clara Cavero-Carbonell, Elizabeth S. Draper, Miriam Gatt, Martin Haeusler, Kari Klungsoyr, Jennifer J. Kurinczuk, Nathalie Lelong, Karen Luyt, Catherine Lynch, Mary T. O'Mahony, Olatz Mokoroa, Vera Nelen, Amanda J. Neville, Anna Pierini, Hanitra Randrianaivo, Judith Rankin, Florence Rouget, Bruno Schaub, David Tucker, Christine Verellen-Dumoulin, Diana Wellesley, Awi Wiesel, Nataliia Zymak-Zakutnia, Monica Lanzoni, Joan K. Morris
EUROPEAN JOURNAL OF MEDICAL GENETICS
(2018)
Article
Genetics & Heredity
Marian K. Bakker, Jorieke E. H. Bergman, Hanneke Fleurke-Rozema, Esther Streefland, Valentina Gracchi, Caterina M. Bilardo, Hermien E. K. De Walle
PRENATAL DIAGNOSIS
(2018)
Article
Pediatrics
Joan K. Morris, Diana G. Wellesley, Ingeborg Barisic, Marie-Claude Addor, Jorieke E. H. Bergman, Paula Braz, Clara Cavero-Carbonell, Elizabeth S. Draper, Miriam Gatt, Martin Haeusler, Kari Klungsoyr, Jennifer J. Kurinczuk, Natalie Lelong, Karen Luyt, Catherine Lynch, Mary T. O'Mahony, Olatz Mokoroa, Vera Nelen, Amanda J. Neville, Anna Pierini, Hanitra Randrianaivo, Judith Rankin, Anke Rissmann, Florence Rouget, Bruno Schaub, David F. Tucker, Christine Verellen-Dumoulin, Awi Wiesel, Natalia Zymak-Zakutnia, Monica Lanzoni, Ester Garne
ARCHIVES OF DISEASE IN CHILDHOOD
(2019)
Article
Genetics & Heredity
Jorieke E. H. Bergman, Katharina Lohner, Corry K. van der Sluis, Patrick Rump, Hermien E. K. de Walle
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2020)
Article
Developmental Biology
Wendy N. Nembhard, Jorieke E. H. Bergman, Maria D. Politis, Jazmin Arteaga-Vazquez, Eva Bermejo-Sanchez, Mark A. Canfield, Janet D. Cragan, Saeed Dastgiri, Hermien E. K. de Walle, Marcia L. Feldkamp, Amy Nance, Miriam Gatt, Boris Groisman, Paula Hurtado-Villa, Karin Kallen, Danielle Landau, Nathalie Lelong, Jorge Lopez-Camelo, Laura Martinez, Margery Morgan, Anna Pierini, Anke Rissmann, Antonin Sipek, Elena Szabova, Giovanna Tagliabue, Wladimir Wertelecki, Ignacio Zarante, Marian K. Bakker, Vijaya Kancherla, Pierpaolo Mastroiacovo
BIRTH DEFECTS RESEARCH
(2020)
Article
Developmental Biology
Jane C. Bell, Gareth Baynam, Jorieke E. H. Bergman, Eva Bermejo-Sanchez, Lorenzo D. Botto, Mark A. Canfield, Saeed Dastgiri, Miriam Gatt, Boris Groisman, Paula Hurtado-Villa, Karin Kallen, Babak Khoshnood, Victoria Konrad, Danielle Landau, Jorge S. Lopez-Camelo, Laura Martinez, Margery Morgan, Osvaldo M. Mutchinick, Amy E. Nance, Wendy Nembhard, Anna Pierini, Anke Rissmann, Xiaoyi Shan, Antonin Sipek, Elena Szabova, Giovanna Tagliabue, Lyubov S. Yevtushok, Ignacio Zarante, Natasha Nassar
Summary: The study found that the survival rates for infants with esophageal atresia were 89.4% at 1 month, 84.5% at 1 year, and 82.7% at 5 years. Infants with additional anomalies or chromosomal/genetic syndromes had lower survival rates compared to those with isolated EA. There was an improvement in 1-month survival rates for EA patients from the 1980s to the 2010s.
BIRTH DEFECTS RESEARCH
(2021)
Article
Public, Environmental & Occupational Health
Francesca Bardi, Jorieke E. H. Bergman, Katelijne Bouman, Jan Jaap Erwich, Leonie K. Duin, Hermien E. K. Walle, Marian K. Bakker
Summary: The study demonstrates that the introduction of the prenatal screening program in the Netherlands has led to a decrease in perinatal mortality among foetuses and neonates with congenital anomalies, but a significant increase in early foetal mortality before 24 weeks' gestation due to higher rates of TOPFA.
PAEDIATRIC AND PERINATAL EPIDEMIOLOGY
(2021)
Article
Public, Environmental & Occupational Health
Francesca Bardi, Jorieke Elisabertha Hermina Bergman, Nicole Siemensma-Muhlenberg, Hermien Evelien Klaaske de Walle, Marian Karolien Bakker
Summary: This study investigates the timing of diagnosis and pregnancy outcome of foetuses and neonates with selected structural anomalies in the Northern Netherlands over a 10-year period. The study found that most structural anomalies were diagnosed during the second trimester and were associated with termination of pregnancy for fetal anomaly and spontaneous death.
PAEDIATRIC AND PERINATAL EPIDEMIOLOGY
(2022)
Article
Genetics & Heredity
Jorieke E. H. Bergman, Ingeborg Barisic, Marie-Claude Addor, Paula Braz, Clara Cavero-Carbonell, Elizabeth S. Draper, Luis J. Echevarria-Gonzalez-de-Garibay, Miriam Gatt, Martin Haeusler, Babak Khoshnood, Kari Klungsoyr, Jennifer J. Kurinczuk, Anna Latos-Bielenska, Karen Luyt, Danielle Martin, Carmel Mullaney, Vera Nelen, Amanda J. Neville, Mary T. O'Mahony, Isabelle Perthus, Anna Pierini, Hanitra Randrianaivo, Judith Rankin, Anke Rissmann, Florence Rouget, Gerardine Sayers, Bruno Schaub, Sarah Stevens, David Tucker, Christine Verellen-Dumoulin, Awi Wiesel, Erica H. Gerkes, Annie Perraud, Maria A. Loane, Diana Wellesley, Hermien E. K. de Walle
Summary: This study investigated the prevalence of ABS and LBWC in Europe from 1980 to 2019 and found a low prevalence with a decreasing trend in the 1980s. Limb anomalies and neural tube defects were commonly observed in ABS, while abdominal and thoracic wall defects and limb anomalies were most prevalent in LBWC. Twinning was confirmed as a risk factor for both ABS and LBWC.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Article
Developmental Biology
Joan K. Morris, Diana Wellesley, Elizabeth Limb, Jorieke E. H. Bergman, Agnieszka Kinsner-Ovaskainen, Marie Claude Addor, Jennifer M. Broughan, Clara Cavero-Carbonell, Carlos M. Dias, Luis-Javier Echevarria-Gonzalez-de-Garibay, Miriam Gatt, Martin Haeusler, Ingeborg Barisic, Kari Klungsoyr, Nathalie Lelong, Anna Materna-Kiryluk, Amanda Neville, Vera Nelen, Mary T. O'Mahony, Isabelle Perthus, Anna Pierini, Judith Rankin, Anke Rissmann, Florence Rouget, Geraldine Sayers, Sarah Stevens, David Tucker, Ester Garne
Summary: Younger mothers in the UK have a higher risk of gastroschisis compared to other European countries. The prevalence of gastroschisis and congenital constriction bands is significantly higher in the UK, even after adjusting for maternal age. However, the prevalence of transverse limb reduction defects is similar between the UK and other countries.
BIRTH DEFECTS RESEARCH
(2022)
Article
Developmental Biology
Vijaya Kancherla, Manasvi Sundar, Lucita Tandaki, Anke Lux, Marian K. Bakker, Jorieke Eh Bergman, Eva Bermejo-Sanchez, Mark A. Canfield, Saeed Dastgiri, Marcia L. Feldkamp, Miriam Gatt, Boris Groisman, Paula Hurtado-Villa, Karin Kallen, Danielle Landau, Nathalie Lelong, Jorge Lopez-Camelo, Laura Elia Martinez, Pierpaolo Mastroiacovo, Margery Morgan, Osvaldo M. Mutchinick, Amy E. Nance, Wendy N. Nembhard, Anna Pierini, Antonin Sipek, Erin B. Stallings, Elena Szabova, Giovanna Tagliabue, Wladimir Wertelecki, Ignacio Zarante, Anke Rissmann
Summary: This study retrospectively analyzed data from 24 population- and hospital-based birth defects surveillance programs in 18 countries to examine the total prevalence, trends in prevalence, and age-specific mortality of anorectal malformation (ARM). The results showed a relatively low overall prevalence of ARM, with decreasing rates observed for multiple and syndromic cases during the study period. The risk of mortality was highest during the first week of life, particularly among multiple and syndromic cases.
BIRTH DEFECTS RESEARCH
(2023)
Article
Developmental Biology
Petra J. Woestenberg, Maud de Feijter, Jorieke E. H. Bergman, L. Renee Lutke, Anneke J. L. M. Passier, Agnes C. Kant
Summary: This study found no association between COVID-19 vaccination during the first trimester of pregnancy and the risk of major non-genetic congenital anomalies in offspring. The findings suggest that COVID-19 vaccines are safe to use during early pregnancy.
BIRTH DEFECTS RESEARCH
(2023)
Review
Developmental Biology
Veronique Y. F. Maas, Ellen G. T. Ederveen, Yrea R. J. van Rijt-Weetink, Petra J. Woestenberg, Jorieke E. H. Bergman, Maartje Conijn
Summary: Self-reported questionnaire data on infants' birth defects from mothers yield fairly similar information compared to information obtained through GPs. Future studies should validate the accuracy of self-reported birth defects by mothers more extensively to improve the quality of drug safety studies during pregnancy.
BIRTH DEFECTS RESEARCH
(2023)
Article
Public, Environmental & Occupational Health
Jorieke E. H. Bergman, L. Renee Lutke, Rijk O. B. Gans, Marie-Claude Addor, Ingeborg Barisic, Clara Cavero-Carbonell, Ester Garne, Miriam Gatt, Kari Klungsoyr, Nathalie Lelong, Catherine Lynch, Olatz Mokoroa, Vera Nelen, Amanda J. Neville, Anna Pierini, Hanitra Randrianaivo, Anke Rissmann, David Tucker, Awi Wiesel, Helen Dolk, Maria Loane, Marian K. Bakker