Results 41 to 50 of about 2,707 (125)

Phenotypic spectrum of patients with mutations in CHD7: clinical implications of endocrinological findings

Endocrine Connections, 2022
Objective: Heterozygous CHD7 mutations cause a broad spectrum of clinical phenotypes ranging from typical CHARGE syndrome to self-limited delayed puberty.
Ja Hye Kim, Yunha Choi, Soojin Hwang, Gu-Hwan Kim, Han-Wook Yoo, Jin-Ho Choi   +5 more
doaj   +1 more source

Single‐nuclei RNA sequencing reveals heterogeneity within developing GnRH3 neurons in zebrafish

Journal of Neuroendocrinology, Volume 38, Issue 7, July 2026.
Abstract Gonadotropin‐releasing hormone (GnRH) is a central regulator of vertebrate reproduction regulating pituitary gonadotropins. In zebrafish, GnRH3 serves as the hypophysiotropic isoform. Its neurons develop by migrating from the nasal placode to the hypothalamus, forming several distinct subpopulations along the migratory path.
Yalong Sun, Matan Golan, Yonathan Zohar, Xiaoxuan Fan, Nilli Zmora   +4 more
wiley   +1 more source

Kallmann Syndrome in a pediatric patient with delayed puberty in Mexico: case report

Revista Mexicana de Endocrinología, Metabolismo y Nutrición
Kallmann syndrome is a low-frequency pathology that mainly affects men. This case report aims to present the management of a pediatric patient diagnosed with Kallmann syndrome in Mexico.
Yeni Calvillo-Romero, Eunice Galicia-Juárez, Gustavo Acosta-Altamirano, Omar E. Valencia-Ledezma, Carlos A. Castro-Fuentes   +4 more
doaj   +1 more source

Prevalence of olfactory and other developmental anomalies in patients with central hypogonadotropic hypogonadism

Frontiers in Endocrinology, 2013
Introduction: Hypogonadotropic hypogonadism (HH) is a heterogenous disease caused by mutations in several genes. Based on the presence of hyposmia/anosmia it is distinguished into Kallmann syndrome and isolated HH.
Elisa eDella Valle, Silvia eVezzani, Vincenzo eRochira, Vincenzo eRochira, Antonio Raffaele Michele Granata, Antonio Raffaele Michele Granata, Bruno eMadeo, Bruno eMadeo, Elisabetta eGenovese, Elisa ePignatti, Marco eMarino, Cesare eCarani, Cesare eCarani, Manuela eSimoni, Manuela eSimoni   +14 more
doaj   +1 more source

Management of Azoospermia: A Systematic Approach

The Obstetrician &Gynaecologist, Volume 28, Issue 3, Page 155-167, July 2026.
ABSTRACT Key Content Work‐up of azoospermic men includes a detailed history, physical examination and investigations to find the underlying cause. Causes and management of azoospermia (pre‐testicular, testicular and post‐testicular) with case presentations.
Naimah Raza, Alex Grammatis, Philippa Sangster, Jackson Kirkman‐Brown   +3 more
wiley   +1 more source

Case report: Novel SIN3A loss-of-function variant as causative for hypogonadotropic hypogonadism in Witteveen–Kolk syndrome

Frontiers in Genetics
Pubertal delay can be due to hypogonadotropic hypogonadism (HH), which may occur in association with anosmia or hyposmia and is known as Kallmann syndrome (OMIM #308700).
Lourdes Correa Brito, Ana Keselman, Florencia Villegas, Paula Scaglia, Paula Scaglia, María Esnaola Azcoiti, María Esnaola Azcoiti, Sebastián Castro, Nora Sanguineti, Agustín Izquierdo, Agustín Izquierdo, Marianela Maier, Ignacio Bergadá, Claudia Arberas, Rodolfo A. Rey, Rodolfo A. Rey, Rodolfo A. Rey, María Gabriela Ropelato, María Gabriela Ropelato   +18 more
doaj   +1 more source

Kisspeptin as a test of hypothalamic dysfunction in pubertal and reproductive disorders

Andrology, Volume 14, Issue 4, Page 1002-1016, May 2026.
Abstract The hypothalamic–pituitary–gonadal axis is regulated by the gonadotropin‐releasing hormone pulse generator in the hypothalamus. This is comprised of neurons that secrete kisspeptin in a pulsatile manner to stimulate the release of GnRH, and, in turn, downstream gonadotropins from the pituitary gland, and subsequently sex steroids and ...
Aureliane C. S. Pierret, Aaran H. Patel, Elisabeth Daniels, Alexander N. Comninos, Waljit S. Dhillo, Ali Abbara   +5 more
wiley   +1 more source

A de novo SOX11 mutation causing hypogonadotropic hypogonadism: a case report and literature review

BMC Pediatrics
Background SOX11 variants have been associated with Coffin–Siris syndrome and a broader neurodevelopmental spectrum (IDDMOH), but their role in isolated or syndromic hypogonadotropic hypogonadism (HH) remains under-recognized. Case presentation We report
Shanshan Chu, Xuewen Yuan, Qing Niu, Wei Gu   +3 more
doaj   +1 more source

Severe enduring anorexia nervosa with significant height increase in adulthood: A case report

Psychiatry and Clinical Neurosciences Reports, Volume 5, Issue 1, March 2026.
Abstract Background Anorexia nervosa (AN) is a severe psychiatric disorder characterized by restrictive eating, low body weight, and distorted body image, and is often complicated by endocrine dysfunction. While hypogonadism and delayed puberty are well documented in female patients, reports in males remain scarce because of the lower prevalence of AN ...
Fuyuki Michiba, Haruka Kozuki, Keima Tose, Takeru Yamauchi, Ami Keidai, Toshiya Murai, Masanori Isobe   +6 more
wiley   +1 more source

New findings in oligogenic inheritance of congenital hypogonadotropic hypogonadism

Archives of Medical Science, 2020
Introduction Congenital hypogonadotropic hypogonadism results from a dysfunction of the hypothalamic-pituitary-gonadal axis, which is essential for the development and function of the reproductive system. It may be associated with anosmia, referred to as
Agnieszka Gach, Iwona Pinkier, Urszula Wysocka, Kinga Sałacińska, Dominik Salachna, Maria Szarras-Czapnik, Aleksandra Pietrzyk, Agata Sakowicz, Anna Nykel, Lena Rutkowska, Magda Rybak-Krzyszkowska, Magda Socha, Aleksander Jamsheer, Lucjusz Jakubowski   +13 more
doaj   +1 more source