Results 51 to 60 of about 265,208 (194)

PROP1 gene mutations in a 36-year-old female presenting with psychosis

Endocrinology, Diabetes & Metabolism Case Reports, 2017
Combined pituitary hormonal deficiency (CPHD) is a rare disease that results from mutations in genes coding for transcription factors that regulate the differentiation of pituitary cells.
Durgesh Prasad Chaudhary, Tshristi Rijal, Kunal Kishor Jha, Harpreet Saluja   +3 more
doaj   +1 more source

Septo-optic dysplasia in an infant

Radiology Case Reports, 2022
Septo-optic dysplasia (SOD) is a rare congenital disorder occurring in only 1 in 10,000 live births. Initially it was described in 1941 by Reeves and further discussed by the French-Swiss neurologist de Morsier (1956) as the disease further addressed his
Ermira Aliu, MD, Juna Musa, MD, MSc, Anusha Parisapogu, MBBS, Erisa Kola, MD, Fjolla Hyseni, MD, Ina Kola, MD, Alejandro Obando Blandón, MD, Pooja Roy, MD, Kampa Prathima, MD, Chandalji Naik Banavath, MD, Pooja Kumbha, MD, Shaik Mashood Tappa, MD, Jasmine Saini, MD, Srikrishnan Pichuthirumalai, MD, Ilir Ahmetgjekaj, Assoc. Prof. Dr   +14 more
doaj   +1 more source

The Spectrum of Congenital Hypogonadotropic Hypogonadism: A 30‐Year Experience at a Tertiary Paediatric Centre

Clinical Endocrinology, Volume 105, Issue 4, Page 464-473, October 2026.
ABSTRACT Congenital hypogonadotropic hypogonadism (CHH) is a rare group of disorders of gonadotropin deficiency, either isolated or as a part of multiple pituitary hormone deficiencies (MPHD). We aimed to describe the spectrum of presentation, diagnosis, and management practices of CHH spanning 30 years at an Australian tertiary paediatric centre. This
Minha Kook, Richard G. McGee, Geoffrey Ambler, Yoon Hi Cho   +3 more
wiley   +1 more source

IMPROVE 2025: The 3rd International Meeting on Pathway‐Related Obesity: Vision & Evidence

Clinical Obesity, Volume 16, Issue 5, October 2026.
ABSTRACT An international cohort of 161 clinicians and researchers from 19 countries attended the 3rd International Meeting on Pathway‐Related Obesity: Vision & Evidence (IMPROVE) in Prague, Czech Republic, on 2–4 July 2025. The aims of the meeting were to advance understanding of hyperphagia and obesity caused by defects in the melanocortin‐4 receptor
Jesús Argente, Erica L. T. van den Akker, Metin Cetiner, Karine Clément, Elizabeth Forsythe, Alastair Garfield, Peter Kühnen, Gabriel Ángel Martos‐Moreno, David Meeker, Hermann L. Müller, Hanneke M. van Santen, Julia von Schnurbein, Bérénice Segrestin, Tomohiro Tanaka, Manuel Tena‐Sempere, Martin Wabitsch, Stefanie Zorn, I. Sadaf Farooqi   +17 more
wiley   +1 more source

Clinical and genetic features of childhood-onset congenital combined pituitary hormone deficiency: a retrospective, single-center cohort study [PDF]

Annals of Pediatric Endocrinology & Metabolism
Purpose To investigate the clinical characteristics and genetic features of childhood-onset congenital combined pituitary hormone deficiency (cCPHD) in Korean patients.
Yoonha Lee, Young Ah Lee, Jung Min Ko, Choong Ho Shin, Yun Jeong Lee   +4 more
doaj   +1 more source

Xq26.3-q27.1 duplication including SOX3 gene in a Chinese boy with hypopituitarism: case report and two years treatment follow up

BMC Medical Genomics, 2022
Background SOX3 is essential for pituitary development normally at the earliest stages of development. In humans, variants of SOX3 can cause X-linked hypopituitarism with various clinical manifestations, with or without mental retardation.
Caiqi Du, Feiya Wang, Zhuoguang Li, Mini Zhang, Xiao Yu, Yan Liang, Xiaoping Luo   +6 more
doaj   +1 more source

Cryptorchidism is a Useful Clue for Idiopathic Hypogonadotropic Hypogonadism in Pituitary Stalk Thickening

Journal of the ASEAN Federation of Endocrine Societies, 2021
Pituitary stalk lesions can represent a wide range of pathologies. The exact cause is often unknown due to hesitancy to proceed with biopsy.
Shamharini Nagaratnam, Subashini Rajoo, Mohamed Badrulnizam Long Bidin , Norzaini Rose Mohd Zain   +3 more
doaj   +1 more source

Genetic landscape of a neonatal hypogonadotropic hypogonadism series: Novel variants and phenotypic spectrum

Journal of Neuroendocrinology, Volume 38, Issue 10, October 2026.
Abstract To describe clinical presentation and genetic findings in a cohort of infants with congenital hypogonadotropic hypogonadism (CHH) diagnosed before 2 years of age. From a large cohort of patients who underwent next‐generation sequencing (NGS) for CHH between 2019 and 2025, we identified all patients tested at ≤2 years of age.
Karine Aouchiche, Laure Van Wormhoudt, Kevin Perge, Joanne Dornberger, Cindy Colson, Marine Delagrange, Clara Leroy, Jennifer Ledmazel, Vanessa Menut, Jessica Benarrous Jaillet, Djamel Bendifallah, Mohamad Hage Chehade, Christelle Dib, Anne Barlier, Thierry Brue, Rachel Reynaud, Alexandru Saveanu   +16 more
wiley   +1 more source

Congenital hypopituitarism. Report of 23 cases Hipopituitarismo congénito: Experiencia en 23 casos [PDF]

, 2008
Background: Congenital hypopituitarism is an uncommon cause of hypophyseal insufficiency. It is less common than growth hormone deficiency, which has an incidence of 1:4.000 to 1:8.000 live newborns.
Cassorla Goluboff, Fernando, Codner Dujovne, Ethel, Mericq, Verónica, Unanue, Nancy, Lammoglia, Juan Javier, Eyzaguirre, Francisca, Román, Rossana   +6 more
core  

Paediatric hypopituitarism: a case report and management challenges in a resource poor setting

The Pan African Medical Journal, 2020
Hypopituitarism, a deficiency of one or more of the hormones produced by the pituitary gland, is a rare disorder. It can be congenital or acquired. Case report on childhood hypopituitarism is rare in Nigeria. We present a 15-year-old boy, second of a set
Isaac Oludare Oluwayemi, Oladele Simeon Olatunya, Ezra Olatunde Ogundare, Adebukola Bidemi Ajite, Adefunke Olarinre Babatola, Adewuyi Temidayo Adeniyi, Akinwumi Kolawole Komolafe   +6 more
doaj   +1 more source