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Jiao Chen, Ke Yuan, Min-Fei He, Chun-Lin Wang, Chun Chen, Yan-Lan Fang, Jian-Fang Zhu, Li Liang
Kallmann syndrome (KS) is a rare pediatric disease with major manifestations of olfactory dysfunction and hypogonadotropic hypogonadism. Five children (4 boys and 1 girl) with KS reported in this article were aged between 6 months and 19 years at the time when they attended the hospital. All the children had the clinical manifestation of hypogonadotropic hypogonadism; in addition, three children had olfactory dysfunction (two were found to have olfactory bulb dysplasia on magnetic resonance imaging), one had cleft lip and palate, and one had micropenis and cryptorchidism with right renal agenesis during infancy...
November 2018: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
Nana Sakakibara, Naoya Morisada, Kandai Nozu, Koji Nagatani, Toshiyuki Ohta, Junya Shimizu, Takuzo Wada, Yuko Shima, Tomohiko Yamamura, Shogo Minamikawa, Junya Fujimura, Tomoko Horinouchi, China Nagano, Akemi Shono, Ming Juan Ye, Yoshimi Nozu, Koichi Nakanishi, Kazumoto Iijima
Oral-facial-digital syndrome type 1 (OFD1) is a ciliopathy characterized by oral, facial, and digital malformations that are often accompanied by polycystic lesion of the kidney and central nervous involvement. OFD1 shows an X-linked recessive inheritance caused by mutation in the OFD1 gene (Xp22.2). The disease is generally considered embryonic lethal for hemizygous males. However, males with OFD1 mutations were recently reported. Here, we report four additional Japanese male patients with OFD1 variants and describe the variable clinical manifestation and disease severity among the four patients...
November 6, 2018: Journal of Human Genetics
Lucie Pépin, Estelle Colin, Marine Tessarech, Stéphanie Rouleau, Natacha Bouhours-Nouet, Dominique Bonneau, Régis Coutant
Issue: To report a homozygous pathogenic variant in PCSK1 in a boy affected with proprotein convertase 1/3 (PC1/3) deficiency. Case description and literature review: A male infant born to consanguineous Turkish parents presented in the first week of life with transient central diabetes insipidus, watery diarrhea, micropenis due to hypogonadotropic hypogonadism and GH deficiency, and transient asymptomatic hypoglycemia. Further endocrine defects gradually appeared, including central hypothyroidism and mild central hypocortisolism (at 1 yr), central diabetes insipidus that reappeared progressively (at 2...
October 31, 2018: Journal of Clinical Endocrinology and Metabolism
Ana Patricia Torga, Juanita Hodax, Mari Mori, Jennifer Schwab, Jose Bernardo Quintos
Kleefstra syndrome is a genetic condition characterized by intellectual disability, childhood hypotonia, and facial dysmorphisms. Genital anomalies such as micropenis, cryptorchidism, and hypospadias have been reported in 30-40% of males diagnosed with the disease. However, endocrinological investigations have been limited. We describe a case of an adolescent male with Kleefstra syndrome due to a pathogenic variant in the EHMT1 gene whose workup for isolated micropenis is suggestive of a partial hypogonadotropic hypogonadism...
2018: Case Reports in Endocrinology
Jin Kyu Oh, Young Jae Im, Kwanjin Park, Jae-Seung Paick
Although it is well known that penile growth is dependent on androgens, few clinical studies have reported successful treatment of micropenis with testosterone, likely due to concerns regarding the efficacy and safety of prolonged testosterone use. Thus, we assessed the synergenic effects of growth hormone (GH) treatments with and without testosterone on phallic growth in a rat model of micropenis. Fifty Sprague-Dawley rats were assigned to control (C), microphallus (MP), testosterone (T), GH (G) and GH plus testosterone (GT) treatment groups, and microphallus was induced by secondary hypogonadism...
September 1, 2018: Endocrine Connections
Luz Yaqueline Ladino, Johanna Galvis, Diana Yasnó, Adriana Ramírez, Orietta Ivonne Beltrán
The Bardet-Biedl syndrome is an autosomal recessive hereditary disorder with vast locus heterogeneity that belongs to the so-called ciliopathies, whose proteins are localized in the primary cilia and present functional deficiency. The multisystemic features of the disease include ocular, renal, cognitive, skeletal, as well as gonadal involvement and obesity, among others, with high inter- and intrafamilial variability. We describe the clinical case of an adolescent male patient with Bardet-Biedl syndrome, including the approach, the results from a 22-gene sequencing panel, and the analysis of updated scientific literature...
September 1, 2018: Biomédica: Revista del Instituto Nacional de Salud
Francisco Sousa Santos, Cátia Ferrinho, Clotilde Limbert, Carlos Vasconcelos
A 42-year-old African man presented with hypogonadic phenotypical features, including gynoid body distribution, gynaecomastia, absent facial and truncal hair and micropenis. He denied ever experiencing development of male secondary sex characteristics. Endocrine testing revealed hypergonadotropic hypogonadism and undetectable AMH. Human chorionic gonadotropin (hCG) stimulation test failed to increase testosterone levels. Peripheral blood karyotype was 46, XY. Clinical examination and abdominal/pelvic/scrotal ultrasound and MRI failed to identify any testicular structures/remnants...
October 12, 2018: BMJ Case Reports
Nicolas Mottet, Christelle Cabrol, Jean-Patrick Metz, Claire Toubin, Francine Arbez-Gindre, Mylène Valduga, Kenneth McElreavey, Didier Riethmuller, Lionel Van Maldergem, Juliette Piard
A 5,6 Mb de novo 19q12-q13.12 interstitial deletion was diagnosed prenatally by array-comparative genomic hybridization in a 26 weeks male fetus presenting with intra-uterine growth retardation, left clubfoot, atypical genitalia and dysmorphic features. Autopsic examination following termination of pregnancy identified a severe disorder of sex development (DSD) including hypospadias, micropenis, bifid scrotum and right cryptorchidism associated with signs of ectodermal dysplasia: scalp hypopigmentation, thick and frizzy hair, absence of eyelashes, poorly developed nails and a thin skin with prominent superficial veins...
September 18, 2018: European Journal of Medical Genetics
Yuenshan Sammi Wong, Yuk Him Tam, Kristine Kit Yi Pang, Ho Chung Yau
BACKGROUND: Evidence-based guidelines on evaluation of boys with proximal hypospadias for the possibility of a disorder of sex development (DSD) have yet to be developed. We aimed to investigate the incidence and diagnoses of DSD in patients with proximal hypospadias. METHODS: We retrospectively reviewed the records of consecutive boys who underwent proximal hypospadias repairs from 2006 to Sept 2017. Data collected included scrotal anomaly, testes position/palpability, micropenis, DSD investigations, and surgical techniques...
September 1, 2018: Journal of Pediatric Surgery
T S El-Ammawi, R T Abdel-Aziz, W Medhat, G A Nasif, S G Abdel-Rahman
BACKGROUND: Early diagnosis of penile size abnormalities is both medically and psychologically important. It is important in the diagnosis of penile problems. Therefore, a current established reference for penile size in newborns and children is vital for diagnosis and early management of micropenis. OBJECTIVES: The aim of the present study was to establish reference values for penile length in newborn and prepubertal boys at different ages in Minia Governorate, Egypt...
July 21, 2018: Journal of Pediatric Urology
Ahmed Amdihun Essa, Lakachew Asrade Feleke, Dawed Muhammed Ahmed
BACKGROUND: The term holoprosencephaly was proposed by DeMyer and Zeman. It is a developmental defect of the embryonic forebrain with heterogeneous etiology including genetic and environmental factors. It is commonly associated with midfacial defects and has a spectrum of presentations. There are four types: alobar, semilobar, lobar, and variant. Holoprosencephaly is relatively rare. The overall prevalence in a multicenter study was 1 in 13,000 to 18,000 live births. However, the presentation of holoprosencephaly with cebocephaly, micropenis, agenesis of middle phalanges of the fifth finger, and postaxial polydactyly in association with early onset preeclampsia is extremely rare...
July 7, 2018: Journal of Medical Case Reports
Mustafa Tosur, Lefkothea P Karaviti
No abstract text is available yet for this article.
July 2018: Pediatrics in Review
Peter A Lee, Tom Mazur, Christopher P Houk, Robert M Blizzard
This report of a 46,XY patient born with a micropenis consistent with etiology from isolated congenital growth hormone deficiency is used to (1) raise the question regarding what degree testicular testosterone exposure to the central nervous system during fetal life and early infancy has on the development of male gender identity, regardless of gender of rearing; (2) suggest the obligatory nature of timely full disclosure of medical history; (3) emphasize that virtually all 46,XY infants with functional testes and a micropenis should be initially boys except some with partial androgen insensitivity syndrome; and (4) highlight the sustaining value of a positive long-term relationship with a trusted physician (R...
July 2018: Pediatrics
Rizki Diposarosa, Kurniawan O Pamungkas, Yunia Sribudiani, Herry Herman, Lita P Suciati, Nurul S Rahayu, Sjarif H Effendy
INTRODUCTION: Hypospadias is one of the most common congenital anomalies of the penis. Previous studies reported mutation of the Wilms' tumor 1 (WT1) gene as a cause of hypospadias. The aim of this study is to describe the WT1 mutation spectrum and polymorphism in hypospadias patients in Indonesia. MATERIAL AND METHODS: DNA was isolated from 74 hypospadias patients at the Division of Pediatric Surgery, Department of Surgery Hasan Sadikin Hospital. All exons in the WT1 gene were amplified by a PCR method, followed by Sanger sequencing...
June 2018: Journal of Pediatric Urology
Adedeji O Adekanye, Samuel A Adefemi, Kayode A Onawola, John A James, Ibrahim T Adeleke, Mark Francis, Ezekiel U Sheshi, Moses E Atakere, Abdullahi D Jibril
Background: Abnormalities of the male external genitalia and groin, a set of lesions which may be congenital or acquired, are rather obscured to many kids and their parents and Nigerian health care system has no formal program to detect them. Objectives: To identify and determine the prevalence of abnormalities of external genitalia and groin among primary school boys in Bida, Nigeria. Methods: This was a cross-sectional study of primary school male pupils in Bida...
December 2017: African Health Sciences
Elodie Haraux, Pierre Tourneux, Christelle Kouakam, Erwan Stephan-Blanchard, Bernard Boudailliez, Andre Leke, Celine Klein, Karen Chardon
Although endocrine-disrupting chemicals (EDCs, including pesticides) are thought to increase the risk of hypospadias, no compounds have been formally identified in this context. Human studies may now be possible via the assessment of meconium as a marker of chronic prenatal exposure. The objective of the present study was to determine whether or not prenatal exposure to pesticides (as detected in meconium) constitutes a risk factor for isolated hypospadias. In a case-control study performed between 2011 and 2014 in northern France, male newborns with isolated hypospadias (n = 25) were matched at birth with controls (n = 58)...
October 2018: Environment International
Irene Ioimo, Carmen Guarracino, Cristina Meazza, Horacio M Domené, Mauro Bozzola
By definition, about 2.5% of children show a short stature due to several causes. Two clinical conditions are characterized by serum IGF-I low levels, idiopathic GH deficiency (IGHD), and GH insensitivity (GHI), and the phenotypic appearance of these patients may be very similar. We studied two children with short stature and similar phenotypes. The first case showed frontal bossing, doll face, acromicria, and truncal obesity, with a GH peak <0.05 ng/ml after stimuli and undetectable serum IGF-I levels...
2018: Case Reports in Pediatrics
Fahimeh Soheilipour, Farzaneh Rohani, Elham Hashemi Dehkordi, Roya Isa Tafreshi, Parisa Mohagheghi, Seyed-Mohammadsalar Zaheriani, Fatemeh Jesmi, Hamid Salehiniya
Background and objectives: The normal length of penis in preterm and term neonates is different among different nations, and is affected by various factors. The present study aimed to determine stretched penile length (SPL) values and cutoff level of micropenis in term and preterm Iranian neonates, for the first time. Materials and methods: All male neonates born in two general hospitals of Tehran (Akbarabadi, and Rasoul hospitals), center of Iran, with gestational age of 28-42 weeks were included and their SPL and penile circumference (PC) were examined on the first 3 days after birth by the same physician...
2018: Frontiers in Endocrinology
Rui Zhang, Siyuan Linpeng, Zhuo Li, Yingxi Cao, Hu Tan, Desheng Liang, Lingqian Wu
Idiopathic hypogonadotropic hypogonadism (IHH) is characterized by low levels of gonadotropins and delayed or absent sexual development. Most of the patients are diagnosed in late adolescence or early adulthood. Determining the diagnosis of IHH in prepubertal patients can be challenging. Making a timely, correct diagnosis has important clinical implications. Here we aimed to identify the genetic cause of IHH in three prepubertal siblings from a Chinese Han family and give appropriate treatment advice. Using whole exome sequencing (WES), we identified a novel homozygous GNRHR mutation (NM_000406; c...
August 30, 2018: Gene
Esra Tuğ, Sezen Güntekin Ergün, Mehmet Ali Ergün, Fatma Nihal Dilek, Emriye Ferda Perçin
Background/aim: In micropenis cases accompanied by external genital abnormalities such as hypospadias and cryptorchidism, infertility and spermatogenic failures have been reported to correlate with androgen receptor ( AR ) gene CAG and GGN repeat polymorphisms. While there is one study on isolated micropenis and CAG repeats, no study related to GGN repeats has been reported. We investigated the relation between CAG and GGN repeats in the AR gene with development of penis length in boys with isolated micropenis...
April 30, 2018: Turkish Journal of Medical Sciences
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